A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612996



Internal ID16400405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:204201..470086hg38UCSC Ensembl
Innerchr9:204201..470086hg19UCSC Ensembl
Innerchr9:194201..460086hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38265886
hg19265886
hg18265886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12450n54
Supporting Variantsnssv1125856
Samples
Known GenesC9orf66, DOCK8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612996
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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