A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442594



Internal ID15154627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133515159..133563774hg38UCSC Ensembl
Innerchr10:135328663..135377278hg19UCSC Ensembl
Innerchr10:135178653..135227268hg18UCSC Ensembl
Innerchr10:135217544..135266159hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3848616
hg1948616
hg1848616
hg1748616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1642082, nssv1642081, nssv1642090, nssv1642086, nssv1642087, nssv1642085, nssv1642094, nssv1642095, nssv1642088, nssv1642077, nssv1642075, nssv1642084, nssv1642089, nssv1642093, nssv1642078, nssv1642092, nssv1642076, nssv1642080, nssv1642091, nssv1642083, nssv1642079
SamplesNA19194, NA18501, NA18948, NA18516, NA19210, NA18505, NA19143, NA18854, NA12234, NA19153, NA18515, NA12892, NA19119, NA19154, NA19193, NA19128, NA19132, NA19130, NA19171, NA18853, NA19204
Known GenesCYP2E1, SYCE1
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)nsv442594
Frequency
Sample Size270
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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