A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562371



Internal ID16349780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76885561..76886554hg38UCSC Ensembl
Innerchr13:77459696..77460689hg19UCSC Ensembl
Innerchr13:76357697..76358690hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38994
hg19994
hg18994
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv815795, nssv815794, nssv815797, nssv815796
Samples
Known GenesKCTD12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562371
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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