A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581765



Internal ID16369174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47570056..47570898hg38UCSC Ensembl
Innerchr2:47797195..47798037hg19UCSC Ensembl
Innerchr2:47650699..47651541hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38843
hg19843
hg18843
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6850n54
Supporting Variantsnssv908139, nssv908137, nssv908136, nssv908138, nssv908140
Samples
Known GenesKCNK12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581765
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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