A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1657493



Internal ID15466389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39702789..39711713hg38UCSC Ensembl
Innerchr4:39704409..39713333hg19UCSC Ensembl
Innerchr4:39380804..39389728hg18UCSC Ensembl
Innerchr4:39526975..39535899hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg388925
hg198925
hg188925
hg178925
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441870
Supporting Variants
SamplesNA12716
Known GenesUBE2K
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)nssv1657493
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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