A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610716



Internal ID16051439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18224320..18409264hg38UCSC Ensembl
Innerchr8:18081829..18266774hg19UCSC Ensembl
Innerchr8:18126109..18311054hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38184945
hg19184946
hg18184946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12046n54
Supporting Variantsnssv1107411
Samples
Known GenesNAT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610716
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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