A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515505



Internal ID15443116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:46587..449700hg38UCSC Ensembl
Innerchr9:46587..449700hg19UCSC Ensembl
Innerchr9:36587..439700hg18UCSC Ensembl
Innerchr9:36587..439700hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38403114
hg19403114
hg18403114
hg17403114
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657757, nssv668624, nssv662116, nssv666039, nssv686304, nssv666773, nssv692287, nssv706085, nssv659213, nssv653362, nssv662594
Samples
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515505
Frequency
Sample Size2026
Observed Gain10
Observed Loss1
Observed Complex0
Frequencyn/a


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