A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441840



Internal ID15153873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:135123783..135126001hg38UCSC Ensembl
Innerchr3:134842625..134844843hg19UCSC Ensembl
Innerchr3:136325315..136327533hg18UCSC Ensembl
Innerchr3:136325323..136327541hg17UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg382219
hg192219
hg182219
hg172219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657358, nssv1657354, nssv1657356, nssv1657353, nssv1657359, nssv1657357, nssv1657361, nssv1657352, nssv1657362, nssv1657360, nssv1657355
SamplesNA19127, NA18861, NA19222, NA18516, NA19203, NA19210, NA19211, NA18515, NA19221, NA19205, NA19171
Known GenesEPHB1
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)nsv441840
Frequency
Sample Size270
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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