A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442127



Internal ID15500846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:149481..274606hg38UCSC Ensembl
Innerchr9:149481..274606hg19UCSC Ensembl
Innerchr9:139481..264606hg18UCSC Ensembl
Innerchr9:139481..264606hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38125126
hg19125126
hg18125126
hg17125126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658767, nssv1658766
SamplesNA18572, NA18576
Known GenesC9orf66, CBWD1, DOCK8
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442127
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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