A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441956



Internal ID15500675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:91318603..91325248hg38UCSC Ensembl
Innerchr5:90614420..90621065hg19UCSC Ensembl
Innerchr5:90650176..90656821hg18UCSC Ensembl
Innerchr5:90650176..90656821hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386646
hg196646
hg186646
hg176646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657921, nssv1657922, nssv1657920, nssv1657923
SamplesNA18862, NA19207, NA19208, NA18863
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)nsv441956
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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