A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562947



Internal ID16350356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99086815..99087462hg38UCSC Ensembl
Innerchr13:99739069..99739716hg19UCSC Ensembl
Innerchr13:98537070..98537717hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38648
hg19648
hg18648
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3362n54
Supporting Variantsnssv818120, nssv818121
Samples
Known GenesDOCK9-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562947
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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