A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696779



Internal ID15433431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:68142258..68167894hg38UCSC Ensembl
InnerchrX:67362100..67387736hg19UCSC Ensembl
InnerchrX:67278825..67304461hg18UCSC Ensembl
InnerchrX:67145121..67170757hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3825637
hg1925637
hg1825637
hg1725637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517446
Supporting Variants
Samples
Known GenesOPHN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696779
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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