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Variant : CV164577 (GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3) Homo sapiens

Symbol: CV164577
Name: GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3
Condition: See cases [RCV000142890]
Clinical Significance: pathogenic
Last Evaluated: 08/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANO9   AP2A2   ART1   ART5   ASCL2   B4GALNT4   BET1L   BGLT3   BRSK2   C11orf21   C11orf40   CARS1   CARS1-AS1   CD151   CD81   CD81-AS1   CDHR5   CDKN1C   CEND1   CHID1   CHRNA10   CRACR2B   CTSD   DEAF1   DRD4   DUSP8   EPS8L2   FAM99A   FAM99B   GATD1   H19   HBB   HBD   HBE1   HBG1   HBG2   HRAS   IFITM1   IFITM10   IFITM2   IFITM3   IFITM5   IGF2   IGF2-AS   INS   INS-IGF2   IRF7   KCNQ1   KCNQ1-AS1   KCNQ1DN   KCNQ1OT1   KRTAP5-1   KRTAP5-2   KRTAP5-3   KRTAP5-4   KRTAP5-5   KRTAP5-6   KRTAP5-AS1   LINC01150   LINC01219   LINC02688   LINC02749   LMNTD2   LMNTD2-AS1   LRRC56   LSP1   MIR210   MIR210HG   MIR4298   MIR4686   MIR4687   MIR483   MIR6743   MIR6744   MIR675   MIR7847   MMP26   MOB2   MRGPRE   MRGPRG   MRGPRG-AS1   MRPL23   MRPL23-AS1   MUC2   MUC5AC   MUC5B   MUC5B-AS1   MUC6   NAP1L4   NLRP6   NUP98   ODF3   OR51A2   OR51A4   OR51A7   OR51B4   OR51D1   OR51E1   OR51E2   OR51F1   OR51F2   OR51G1   OR51G2   OR51H1   OR51L1   OR51S1   OR51T1   OR51V1   OR52A1   OR52A5   OR52B4   OR52E1   OR52E2   OR52I1   OR52I2   OR52J3   OR52K1   OR52K2   OR52M1   OR52R1   OR52Z1   OSBPL5   PANO1   PGAP2   PGGHG   PHLDA2   PHRF1   PIDD1   PKP3   PNPLA2   POLR2L   PRR33   PSMD13   PTDSS2   RASSF7   RHOG   RIC8A   RNH1   RPLP2   RRM1   SCT   SIGIRR   SIRT3   SLC22A18   SLC22A18AS   SLC25A22   SNORA52   SNORA54   SNORD131   STIM1   SYT8   TALDO1   TH   TMEM80   TNNI2   TNNT3   TOLLIP   TOLLIP-AS1   TRIM21   TRIM68   TRPM5   TSPAN32   TSPAN4   TSSC4   ZNF195  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_196855)_(5321874_?)dup
NC_000011.9:g.(?_196855)_(5343104_?)dup
NC_000011.8:g.(?_186855)_(5299680_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811196,855 - 5,321,874CLINVAR
GRCh3711196,855 - 5,343,104CLINVAR
Build 3611186,855 - 5,299,680CLINVAR
Cytogenetic Map1111p15.5-15.4CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490488
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE



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