A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441950



Internal ID15500669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:41231396..41241291hg38UCSC Ensembl
Innerchr5:41231498..41241393hg19UCSC Ensembl
Innerchr5:41267255..41277150hg18UCSC Ensembl
Innerchr5:41267255..41277150hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg389896
hg199896
hg189896
hg179896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657895, nssv1657894, nssv1657896
SamplesNA18524, NA18967, NA18555
Known GenesC6
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)nsv441950
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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