A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175056



Internal ID15534243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133452885..133563944hg38UCSC Ensembl
Innerchr10:135266389..135377448hg19UCSC Ensembl
Innerchr10:135116379..135227438hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38111060
hg19111060
hg18111060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv552699
Supporting Variants
SamplesNINDS_49
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175056
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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