A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546445



Internal ID15987168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:67013915..67223353hg38UCSC Ensembl
Innerchr1:67479598..67689036hg19UCSC Ensembl
Innerchr1:67252186..67461624hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38209439
hg19209439
hg18209439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173008
SamplesHGDP01099
Known GenesC1orf141, IL23R, SLC35D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546445
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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