A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611023



Internal ID16051746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39386829..39498641hg38UCSC Ensembl
Innerchr8:39244348..39356160hg19UCSC Ensembl
Innerchr8:39363505..39475317hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38111813
hg19111813
hg18111813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12091n54
Supporting Variantsnssv1111104
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611023
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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