A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610964



Internal ID16398373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39375062..39386523hg38UCSC Ensembl
Innerchr8:39232581..39244042hg19UCSC Ensembl
Innerchr8:39351738..39363199hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3811462
hg1911462
hg1811462
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12098n54
Supporting Variantsnssv1110051, nssv1110048, nssv1110050, nssv1110049, nssv1110047
Samples
Known GenesADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610964
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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