A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1659639



Internal ID15498137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42630950..42651584hg38UCSC Ensembl
Innerchr13:43205086..43225720hg19UCSC Ensembl
Innerchr13:42103086..42123720hg18UCSC Ensembl
Innerchr13:42103086..42123720hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3820635
hg1920635
hg1820635
hg1720635
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442306
Supporting Variants
SamplesNA19205
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)nssv1659639
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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