A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561350



Internal ID16002073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24700388..24756889hg38UCSC Ensembl
Innerchr13:25274526..25331027hg19UCSC Ensembl
Innerchr13:24172526..24229027hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3856502
hg1956502
hg1856502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3093n54
Supporting Variantsnssv806776, nssv806777
Samples
Known GenesATP12A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561350
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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