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Variant : CV164647 (GRCh38/hg38 Xq22.2-22.3(chrX:104164387-105103297)x2) Homo sapiens

Symbol: CV164647
Name: GRCh38/hg38 Xq22.2-22.3(chrX:104164387-105103297)x2
Condition: See cases [RCV000142960]
Clinical Significance: uncertain significance
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ESX1   FAM199X   IL1RAPL2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_104164387)_(105103297_?)dup
NC_000023.10:g.(?_103552340)_(104347979_?)dup
NC_000023.9:g.(?_103295724)_(104234635_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X104,164,387 - 105,103,297CLINVAR
GRCh37X103,552,340 - 104,347,979 (+)CLINVAR
Build 36X103,295,724 - 104,234,635CLINVAR
Cytogenetic MapXXq22.2-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490558
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.