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Variant : CV160574 (GRCh38/hg38 20p13-12.3(chr20:4926195-5543771)x3) Homo sapiens

Symbol: CV160574
Name: GRCh38/hg38 20p13-12.3(chr20:4926195-5543771)x3
Condition: See cases [RCV000139625]
Clinical Significance: uncertain significance
Last Evaluated: 08/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CDS2   LINC00654   LINC00658   LINC01729   LOC643406   PCNA   PCNA-AS1   PROKR2   SLC23A2   TMEM230  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_4926195)_(5543771_?)dup
NC_000020.10:g.(?_4906841)_(5524417_?)dup
NC_000020.9:g.(?_4854841)_(5472417_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38204,926,195 - 5,543,771CLINVAR
GRCh37204,906,841 - 5,524,417CLINVAR
Build 36204,854,841 - 5,472,417CLINVAR
Cytogenetic Map2020p13-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487156
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.