A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545180



Internal ID16332589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6005052..6005870hg38UCSC Ensembl
Innerchr1:6065112..6065930hg19UCSC Ensembl
Innerchr1:5987699..5988517hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38819
hg19819
hg18819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv66n54
Supporting Variantsnssv708960
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545180
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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