A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610420



Internal ID16051143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13469408..13765962hg38UCSC Ensembl
Innerchr8:13326917..13623471hg19UCSC Ensembl
Innerchr8:13371288..13667842hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38296555
hg19296555
hg18296555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1106779
Samples
Known GenesC8orf48, DLC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610420
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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