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Variant : CV154865 (GRCh38/hg38 22q11.21-11.22(chr22:21583391-21832041)x3) Homo sapiens

Symbol: CV154865
Name: GRCh38/hg38 22q11.21-11.22(chr22:21583391-21832041)x3
Condition: See cases [RCV000134516]
Clinical Significance: uncertain significance
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCDC116   MAPK1   MIR130B   MIR301B   PPIL2   SDF2L1   UBE2L3   YDJC   YPEL1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_21583391)_(21832041_?)dup
NC_000022.10:g.(?_21937680)_(22186330_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382221,583,391 - 21,832,041CLINVAR
GRCh372221,937,680 - 22,186,330CLINVAR
Build 362220,267,680 - 20,516,330CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482096
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.