A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612985



Internal ID16053708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112542..358932hg38UCSC Ensembl
Innerchr9:112542..358932hg19UCSC Ensembl
Innerchr9:102542..348932hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38246391
hg19246391
hg18246391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12447n54
Supporting Variantsnssv1125845
Samples
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612985
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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