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Variant : CV161689 (GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4) Homo sapiens

Symbol: CV161689
Name: GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4
Condition: See cases [RCV000140623]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC012236.1   AC022613.1   AC091304.1   AC138649.1   AC138749.1   APBA2   ARHGAP11A   ARHGAP11B   ATP10A   CHRFAM7A   CHRNA7   CYFIP1   FAM189A1   FAM30B   FAM30C   FAN1   GABRA5   GABRB3   GABRG3   GABRG3-AS1   GOLGA6L1   GOLGA6L2   GOLGA6L22   GOLGA6L6   GOLGA6L7   GOLGA8F   GOLGA8G   GOLGA8H   GOLGA8J   GOLGA8K   GOLGA8M   GOLGA8N   GOLGA8O   GOLGA8Q   GOLGA8R   GOLGA8S   GOLGA8T   HERC2   IPW   KLF13   LINC00929   LINC01193   LINC02203   LINC02249   LINC02250   LINC02256   LINC02346   LINC02352   MAGEL2   MIR1268A   MIR211   MIR3118-2   MIR3118-3   MIR3118-4   MIR4508   MIR4509-1   MIR4509-2   MIR4509-3   MIR4715   MIR5701-1   MIR5701-2   MIR5701-3   MKRN3   MTMR10   NDN   NIPA1   NIPA2   NPAP1   NSMCE3   OCA2   OR4M2   OR4N4   OTUD7A   POTEB   POTEB2   POTEB3   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   PWRN3   PWRN4   SNHG14   SNORD107   SNORD108   SNORD109A   SNORD109B   SNORD115-1   SNORD115-10   SNORD115-11   SNORD115-12   SNORD115-13   SNORD115-14   SNORD115-15   SNORD115-16   SNORD115-17   SNORD115-18   SNORD115-19   SNORD115-2   SNORD115-20   SNORD115-21   SNORD115-22   SNORD115-23   SNORD115-24   SNORD115-25   SNORD115-26   SNORD115-27   SNORD115-28   SNORD115-29   SNORD115-3   SNORD115-30   SNORD115-31   SNORD115-32   SNORD115-33   SNORD115-34   SNORD115-35   SNORD115-36   SNORD115-37   SNORD115-38   SNORD115-39   SNORD115-4   SNORD115-40   SNORD115-41   SNORD115-42   SNORD115-43   SNORD115-44   SNORD115-45   SNORD115-46   SNORD115-47   SNORD115-48   SNORD115-5   SNORD115-6   SNORD115-7   SNORD115-8   SNORD115-9   SNORD116-1   SNORD116-10   SNORD116-11   SNORD116-12   SNORD116-13   SNORD116-14   SNORD116-15   SNORD116-16   SNORD116-17   SNORD116-18   SNORD116-19   SNORD116-2   SNORD116-20   SNORD116-21   SNORD116-22   SNORD116-23   SNORD116-24   SNORD116-25   SNORD116-26   SNORD116-27   SNORD116-28   SNORD116-29   SNORD116-3   SNORD116-30   SNORD116-4   SNORD116-5   SNORD116-6   SNORD116-7   SNORD116-8   SNORD116-9   SNORD116@   SNORD64   SNRPN   SNURF   TJP1   TRE-TTC2-2   TRPM1   TUBGCP5   UBE3A  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_19840581)_(32621939_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381519,840,581 - 32,621,939CLINVAR
GRCh371520,045,834 - 32,914,140CLINVAR
Build 361518,305,848 - 30,701,432CLINVAR
Cytogenetic Map1515q11.1-13.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9488153
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-21
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.