A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1659008



Internal ID15488219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:31961352..31978017hg38UCSC Ensembl
Innerchr10:32250280..32266945hg19UCSC Ensembl
Innerchr10:32290286..32306951hg18UCSC Ensembl
Innerchr10:32290286..32306951hg17UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg3816666
hg1916666
hg1816666
hg1716666
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442176
Supporting Variants
SamplesNA18987
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)nssv1659008
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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