A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442166



Internal ID15154199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133253155..133257484hg38UCSC Ensembl
Innerchr9:136128542..136132871hg19UCSC Ensembl
Innerchr9:135118363..135122692hg18UCSC Ensembl
Innerchr9:133158096..133162425hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg384330
hg194330
hg184330
hg174330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658946, nssv1658947, nssv1658948, nssv1658945, nssv1658944
SamplesNA18855, NA19152, NA19103, NA19154, NA19102
Known GenesABO
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)nsv442166
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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