A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548997



Internal ID15989720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201316584..201534604hg38UCSC Ensembl
Innerchr1:201285712..201503732hg19UCSC Ensembl
Innerchr1:199552335..199770355hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38218021
hg19218021
hg18218021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174034
SamplesHGDP00456
Known GenesCSRP1, LAD1, PHLDA3, PKP1, RPS10P7, TNNI1, TNNT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548997
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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