A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1646008



Internal ID15137198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43025412..43028957hg38UCSC Ensembl
Innerchr13:43599548..43603093hg19UCSC Ensembl
Innerchr13:42497548..42501093hg18UCSC Ensembl
Innerchr13:42497548..42501093hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383546
hg193546
hg183546
hg173546
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442669
Supporting Variants
SamplesNA18945
Known GenesDNAJC15
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)nssv1646008
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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