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Variant : CV158538 (GRCh38/hg38 20p13-12.3(chr20:5039774-5645855)x3) Homo sapiens

Symbol: CV158538
Name: GRCh38/hg38 20p13-12.3(chr20:5039774-5645855)x3
Condition: See cases [RCV000137853]
Clinical Significance: uncertain significance
Last Evaluated: 10/10/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CDS2   GPCPD1   LINC00654   LINC00658   LINC01729   LOC643406   PCNA   PCNA-AS1   PROKR2   TMEM230  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_5039774)_(5645855_?)dup
NC_000020.10:g.(?_5020420)_(5626501_?)dup
NC_000020.9:g.(?_4968420)_(5574501_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38205,039,774 - 5,645,855CLINVAR
GRCh37205,020,420 - 5,626,501CLINVAR
Build 36204,968,420 - 5,574,501CLINVAR
Cytogenetic Map2020p13-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485405
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.