A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1652462



Internal ID15461297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40845089..40875041hg38UCSC Ensembl
Innerchr19:41350994..41380946hg19UCSC Ensembl
Innerchr19:46042834..46072786hg18UCSC Ensembl
Innerchr19:46042834..46072786hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3829953
hg1929953
hg1829953
hg1729953
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442765
Supporting Variants
SamplesNA11829
Known GenesCYP2A6
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)nssv1652462
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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