A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545952



Internal ID16333361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31649192..31689683hg38UCSC Ensembl
Innerchr1:32114793..32155284hg19UCSC Ensembl
Innerchr1:31887380..31927871hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3840492
hg1940492
hg1840492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173809
Samples1780862339_A
Known GenesCOL16A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545952
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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