A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612380



Internal ID16399789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136670241..136844406hg38UCSC Ensembl
Innerchr8:137682484..137856649hg19UCSC Ensembl
Innerchr8:137751666..137925831hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38174166
hg19174166
hg18174166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12343n54
Supporting Variantsnssv1122248, nssv1122233, nssv1122231, nssv1122237, nssv1122245, nssv1122241, nssv1122240, nssv1122244, nssv1122239, nssv1122234, nssv1122243, nssv1122238, nssv1122247, nssv1122235, nssv1122232, nssv1122242, nssv1122236, nssv1122246
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612380
Frequency
Sample Size17421
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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