A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611675



Internal ID16052398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86174821..86290099hg38UCSC Ensembl
Innerchr8:87187050..87302328hg19UCSC Ensembl
Innerchr8:87256166..87371444hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38115279
hg19115279
hg18115279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12228n54
Supporting Variantsnssv1156628
SamplesNINDS_9
Known GenesSLC7A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611675
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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