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Variant : CV162049 (GRCh38/hg38 20p13(chr20:209424-1852477)x3) Homo sapiens

Symbol: CV162049
Name: GRCh38/hg38 20p13(chr20:209424-1852477)x3
Condition: See cases [RCV000140876]
Clinical Significance: uncertain significance
Last Evaluated: 02/13/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANGPT4   C20orf202   C20orf96   CSNK2A1   DEFB129   DEFB132   FAM110A   FKBP1A   FKBP1A-SDCBP2   MIR6869   NRSN2   NRSN2-AS1   NSFL1C   PSMF1   RAD21L1   RBCK1   RSPO4   SCRT2   SDCBP2   SDCBP2-AS1   SIRPB1   SIRPB2   SIRPD   SIRPG   SIRPG-AS1   SLC52A3   SNPH   SOX12   SRXN1   TBC1D20   TCF15   TMEM74B   TRIB3   ZCCHC3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_209424)_(1852477_?)dup
NC_000020.10:g.(?_190065)_(1833123_?)dup
NC_000020.9:g.(?_138065)_(1781123_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3820209,424 - 1,852,477CLINVAR
GRCh3720190,065 - 1,833,123CLINVAR
Build 3620138,065 - 1,781,123CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488404
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.