A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562927



Internal ID16003650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99056285..99177057hg38UCSC Ensembl
Innerchr13:99708539..99829311hg19UCSC Ensembl
Innerchr13:98506540..98627312hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38120773
hg19120773
hg18120773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv818084
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)nsv562927
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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