A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12450n54



Internal ID19004626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:204201..510546hg38UCSC Ensembl
chr9:204201..510546hg19UCSC Ensembl
chr9:194201..500546hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38306346
hg19306346
hg18306346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612997, nsv612996
SamplesHGDP01276
Known GenesC9orf66, DOCK8, KANK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12450n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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