A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581766



Internal ID16369175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47570108..47570831hg38UCSC Ensembl
Innerchr2:47797247..47797970hg19UCSC Ensembl
Innerchr2:47650751..47651474hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38724
hg19724
hg18724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6849n54
Supporting Variantsnssv908141
Samples
Known GenesKCNK12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581766
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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