A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562934



Internal ID16350343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99086152..99087863hg38UCSC Ensembl
Innerchr13:99738406..99740117hg19UCSC Ensembl
Innerchr13:98536407..98538118hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381712
hg191712
hg181712
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv818095, nssv818093, nssv818094
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)nsv562934
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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