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Variant : CV162960 (GRCh38/hg38 Xq23(chrX:111318320-111348178)x3) Homo sapiens

Symbol: CV162960
Name: GRCh38/hg38 Xq23(chrX:111318320-111348178)x3
Condition: See cases [RCV000141678]
Clinical Significance: pathogenic
Last Evaluated: 03/24/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DCX  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_111318320)_(111348178_?)dup
NC_000023.10:g.(?_110561548)_(110591406_?)dup
NC_000023.9:g.(?_110448204)_(110478062_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,318,320 - 111,348,178CLINVAR
GRCh37X110,561,548 - 110,591,406CLINVAR
Build 36X110,448,204 - 110,478,062CLINVAR
Cytogenetic MapXXq23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489203
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-07-09
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.