Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV382811 (GRCh37/hg19 22q11.23(chr22:23739611-24544632)x4) Homo sapiens

Symbol: CV382811
Name: GRCh37/hg19 22q11.23(chr22:23739611-24544632)x4
Condition: See cases [RCV000448428]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   GSTT1   GSTT2   GSTT2B   IGLL1   MIF   MMP11   RGL4   SLC2A11   SMARCB1   VPREB3   ZNF70  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372223,739,611 - 24,544,632CLINVAR
Cytogenetic Map2222q11.23CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12853136
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.