A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610967



Internal ID16398376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39375062..39500465hg38UCSC Ensembl
Innerchr8:39232581..39357984hg19UCSC Ensembl
Innerchr8:39351738..39477141hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38125404
hg19125404
hg18125404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12093n54
Supporting Variantsnssv1110055, nssv1110054
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610967
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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