A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562941



Internal ID16350350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99086330..99087863hg38UCSC Ensembl
Innerchr13:99738584..99740117hg19UCSC Ensembl
Innerchr13:98536585..98538118hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381534
hg191534
hg181534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3360n54
Supporting Variantsnssv818108, nssv818107
Samples
Known GenesDOCK9, DOCK9-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562941
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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