A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694177



Internal ID15430829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:96908363..97053658hg38UCSC Ensembl
InnerchrX:96163362..96308657hg19UCSC Ensembl
InnerchrX:96050018..96195313hg18UCSC Ensembl
InnerchrX:95969507..96114802hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg38145296
hg19145296
hg18145296
hg17145296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515760
Supporting Variants
Samples
Known GenesDIAPH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694177
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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