A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442570



Internal ID15154603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13014550..13016840hg38UCSC Ensembl
Innerchr10:13056550..13058840hg19UCSC Ensembl
Innerchr10:13096556..13098846hg18UCSC Ensembl
Innerchr10:13096556..13098846hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382291
hg192291
hg182291
hg172291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1640622, nssv1640617, nssv1640621, nssv1640619, nssv1640620, nssv1640623, nssv1640618, nssv1640624, nssv1640625
SamplesNA07056, NA12875, NA10839, NA12813, NA07019, NA12005, NA06985, NA12891, NA06991
Known GenesCCDC3
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)nsv442570
Frequency
Sample Size270
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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