A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560117



Internal ID16347526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109144400..109234244hg38UCSC Ensembl
Innerchr12:109582205..109672049hg19UCSC Ensembl
Innerchr12:108066588..108156432hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3889845
hg1989845
hg1889845
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2855n54
Supporting Variantsnssv801934
Samples
Known GenesACACB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560117
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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