A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561348



Internal ID16002071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24643343..24729117hg38UCSC Ensembl
Innerchr13:25217481..25303255hg19UCSC Ensembl
Innerchr13:24115481..24201255hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3885775
hg1985775
hg1885775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv806774
Samples
Known GenesATP12A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561348
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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