A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441865



Internal ID15500584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:28640711..28729202hg38UCSC Ensembl
Innerchr4:28642333..28730824hg19UCSC Ensembl
Innerchr4:28251431..28339922hg18UCSC Ensembl
Innerchr4:28318602..28407093hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3888492
hg1988492
hg1888492
hg1788492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657466, nssv1657465
SamplesNA18959, NA18956
Known Genes
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)nsv441865
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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