A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442191



Internal ID15500910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68852888..68862361hg38UCSC Ensembl
Innerchr10:70612644..70622117hg19UCSC Ensembl
Innerchr10:70282650..70292123hg18UCSC Ensembl
Innerchr10:70282650..70292123hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg389474
hg199474
hg189474
hg179474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659096, nssv1659093, nssv1659094, nssv1659097, nssv1659095
SamplesNA19159, NA19161, NA18853, NA18523, NA18854
Known GenesSTOX1
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)nsv442191
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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