A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560072



Internal ID16347481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106247359..106248108hg38UCSC Ensembl
Innerchr12:106641137..106641886hg19UCSC Ensembl
Innerchr12:105165267..105166016hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38750
hg19750
hg18750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2847n54
Supporting Variantsnssv801874
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560072
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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