A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560074



Internal ID16347483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106247463..106248286hg38UCSC Ensembl
Innerchr12:106641241..106642064hg19UCSC Ensembl
Innerchr12:105165371..105166194hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38824
hg19824
hg18824
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801876, nssv801877
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560074
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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