A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560058



Internal ID16347467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106240944..106248444hg38UCSC Ensembl
Innerchr12:106634722..106642222hg19UCSC Ensembl
Innerchr12:105158852..105166352hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg387501
hg197501
hg187501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2842n54
Supporting Variantsnssv801816, nssv801815, nssv801818, nssv801817
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560058
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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