A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441753



Internal ID15500472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40537027..40541762hg38UCSC Ensembl
Innerchr2:40764167..40768902hg19UCSC Ensembl
Innerchr2:40617671..40622406hg18UCSC Ensembl
Innerchr2:40675818..40680553hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg384736
hg194736
hg184736
hg174736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656967, nssv1656968, nssv1656970, nssv1656969, nssv1656966
SamplesNA19207, NA19103, NA19208, NA19102, NA18852
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)nsv441753
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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