A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv908118



Internal ID16202074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47569996..47570896hg38UCSC Ensembl
Innerchr2:47797135..47798035hg19UCSC Ensembl
Innerchr2:47650639..47651539hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38901
hg19901
hg18901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581762
Supporting Variants
Samples
Known GenesKCNK12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv908118
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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