A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149365



Internal ID15528440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42317580..42498404hg38UCSC Ensembl
Innerchr17:40469598..40650422hg19UCSC Ensembl
Innerchr17:37723124..37903948hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38180825
hg19180825
hg18180825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575051
Supporting Variants
SamplesHGDP00641
Known GenesATP6V0A1, PTRF, STAT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149365
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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