A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520630



Internal ID15101237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:66486237..66797185hg38UCSC Ensembl
InnerchrX:65706079..66017027hg19UCSC Ensembl
InnerchrX:65622804..65933752hg18UCSC Ensembl
InnerchrX:65489100..65800048hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38310949
hg19310949
hg18310949
hg17310949
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704867, nssv682762, nssv704733, nssv673360
Samples
Known GenesEDA2R
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520630
Frequency
Sample Size2026
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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