A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547498



Internal ID15988221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:110492552..110518440hg38UCSC Ensembl
Innerchr1:111035174..111061062hg19UCSC Ensembl
Innerchr1:110836697..110862585hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3825889
hg1925889
hg1825889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv722258
Samples
Known GenesKCNA10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547498
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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