A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1110018



Internal ID15616518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39349476..39480405hg38UCSC Ensembl
Innerchr8:39206995..39337924hg19UCSC Ensembl
Innerchr8:39326152..39457081hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38130930
hg19130930
hg18130930
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610951
Supporting Variants
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1110018
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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