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Variant : CV162597 (GRCh38/hg38 2p23.2(chr2:28689225-28954146)x3) Homo sapiens

Symbol: CV162597
Name: GRCh38/hg38 2p23.2(chr2:28689225-28954146)x3
Condition: See cases [RCV000141353]
Clinical Significance: uncertain significance
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: PPP1CB   SNORD53   SNORD53B   SNORD92   SPDYA   TRMT61B   WDR43  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_28689225)_(28954146_?)dup
NC_000002.11:g.(?_28912091)_(29177012_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38228,689,225 - 28,954,146CLINVAR
GRCh37228,912,091 - 29,177,012CLINVAR
Build 36228,765,595 - 29,030,516CLINVAR
Cytogenetic Map22p23.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488878
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.