A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581643



Internal ID16369052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42491758..42494148hg38UCSC Ensembl
Innerchr2:42718898..42721288hg19UCSC Ensembl
Innerchr2:42572402..42574792hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382391
hg192391
hg182391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv907881
Samples
Known GenesKCNG3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581643
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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