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Variant : CV157823 (GRCh38/hg38 20p12.1(chr20:16721087-17300554)x3) Homo sapiens

Symbol: CV157823
Name: GRCh38/hg38 20p12.1(chr20:16721087-17300554)x3
Condition: See cases [RCV000137156]
Clinical Significance: uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: OTOR   PCSK2   SNRPB2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_16721087)_(17300554_?)dup
NC_000020.10:g.(?_16701732)_(17281199_?)dup
NC_000020.9:g.(?_16649732)_(17229199_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382016,721,087 - 17,300,554CLINVAR
GRCh372016,701,732 - 17,281,199CLINVAR
Build 362016,649,732 - 17,229,199CLINVAR
Cytogenetic Map2020p12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484715
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.