A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469859



Internal ID15187888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:83783237..83973042hg38UCSC Ensembl
Innerchr9:86398152..86587957hg19UCSC Ensembl
Innerchr9:85587972..85777777hg18UCSC Ensembl
Innerchr9:81855271..82045076hg16UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38189806
hg19189806
hg18189806
hg16189806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676478
Samples
Known GenesC9orf64, GKAP1, HNRNPK, KIF27, MIR7-1
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469859
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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