A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441964



Internal ID15500683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135966326..135999162hg38UCSC Ensembl
Innerchr5:135302015..135334851hg19UCSC Ensembl
Innerchr5:135329914..135362750hg18UCSC Ensembl
Innerchr5:135329914..135362750hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3832837
hg1932837
hg1832837
hg1732837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657953, nssv1657954
SamplesNA18547, NA18529
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)nsv441964
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer