A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704867



Internal ID15094833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:66594118..66605144hg38UCSC Ensembl
InnerchrX:65813960..65824986hg19UCSC Ensembl
InnerchrX:65730685..65741711hg18UCSC Ensembl
InnerchrX:65596981..65608007hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3811027
hg1911027
hg1811027
hg1711027
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
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)nssv704867
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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