A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583521



Internal ID16370930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:162539784..162611723hg38UCSC Ensembl
Innerchr2:163396294..163468233hg19UCSC Ensembl
Innerchr2:163104540..163176479hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3871940
hg1971940
hg1871940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv924937
Samples
Known GenesKCNH7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583521
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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