A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561345



Internal ID16002068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24606013..24763162hg38UCSC Ensembl
Innerchr13:25180151..25337300hg19UCSC Ensembl
Innerchr13:24078151..24235300hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38157150
hg19157150
hg18157150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176339
SamplesHGDP01361
Known GenesATP12A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561345
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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