A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442323



Internal ID15501042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:84974344..84981836hg38UCSC Ensembl
Innerchr13:85548479..85555971hg19UCSC Ensembl
Innerchr13:84446480..84453972hg18UCSC Ensembl
Innerchr13:84446480..84453972hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg387493
hg197493
hg187493
hg177493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659705, nssv1659706
SamplesNA18990, NA18991
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)nsv442323
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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