A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612691



Internal ID16400100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142241748..142312847hg38UCSC Ensembl
Innerchr8:143323109..143394208hg19UCSC Ensembl
Innerchr8:143321016..143392115hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3871100
hg1971100
hg1871100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12392n54
Supporting Variantsnssv1156649
Samples1780862444_A
Known GenesTSNARE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612691
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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