A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612997



Internal ID16400406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:238389..510546hg38UCSC Ensembl
Innerchr9:238389..510546hg19UCSC Ensembl
Innerchr9:228389..500546hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38272158
hg19272158
hg18272158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12450n54
Supporting Variantsnssv1156404
SamplesHGDP01276
Known GenesDOCK8, KANK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612997
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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