A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704733



Internal ID15094699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:66594118..66713007hg38UCSC Ensembl
InnerchrX:65813960..65932849hg19UCSC Ensembl
InnerchrX:65730685..65849574hg18UCSC Ensembl
InnerchrX:65596981..65715870hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38118890
hg19118890
hg18118890
hg17118890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520630
Supporting Variants
Samples
Known GenesEDA2R
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704733
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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