A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442455



Internal ID15154488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15669533..15680811hg38UCSC Ensembl
Innerchr19:15780343..15791621hg19UCSC Ensembl
Innerchr19:15641343..15652621hg18UCSC Ensembl
Innerchr19:15641343..15652621hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3811279
hg1911279
hg1811279
hg1711279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660405, nssv1660402, nssv1660403, nssv1660399, nssv1660397, nssv1660406, nssv1660401, nssv1660396, nssv1660398, nssv1660400, nssv1660404
SamplesNA18508, NA18860, NA19137, NA18859, NA18515, NA18516, NA18523, NA18506, NA18854, NA18505, NA19139
Known GenesCYP4F12
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)nsv442455
Frequency
Sample Size270
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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