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Variant : CV248394 (GRCh37/hg19 Xp22.2-22.13(chrX:16997258-17701223)x2) Homo sapiens

Symbol: CV248394
Name: GRCh37/hg19 Xp22.2-22.13(chrX:16997258-17701223)x2
Condition: See cases [RCV000240031]
Clinical Significance: uncertain significance
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: NHS   REPS2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37X16,997,258 - 17,701,223CLINVAR
Cytogenetic MapXXp22.2-22.13CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541561
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE


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