A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441805



Internal ID15500524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240373711..240381999hg38UCSC Ensembl
Innerchr2:241313128..241321416hg19UCSC Ensembl
Innerchr2:240961801..240970089hg18UCSC Ensembl
Innerchr2:241033118..241041406hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg388289
hg198289
hg188289
hg178289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657205, nssv1657204
SamplesNA19103, NA19101
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)nsv441805
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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