A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550099



Internal ID16337508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18561034..18569274hg38UCSC Ensembl
Innerchr10:18849963..18858203hg19UCSC Ensembl
Innerchr10:18889969..18898209hg18UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg388241
hg198241
hg188241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv979n54
Supporting Variantsnssv744251
Samples
Known GenesNSUN6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550099
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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