A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033067



Internal ID19122289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:46587..499586hg38UCSC Ensembl
Innerchr9:46587..499586hg19UCSC Ensembl
Innerchr9:36587..489586hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38453000
hg19453000
hg18453000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7346n100
Supporting Variantsnssv3690957
Samples
Known GenesC9orf66, CBWD1, DOCK8, FOXD4, KANK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033067
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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