A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560060



Internal ID16347469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106244098..106248612hg38UCSC Ensembl
Innerchr12:106637876..106642390hg19UCSC Ensembl
Innerchr12:105162006..105166520hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384515
hg194515
hg184515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2843n54
Supporting Variantsnssv801820
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560060
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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