A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442629



Internal ID15154662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136696..2149240hg38UCSC Ensembl
Innerchr12:2245862..2258406hg19UCSC Ensembl
Innerchr12:2116123..2128667hg18UCSC Ensembl
Innerchr12:2116123..2128667hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812545
hg1912545
hg1812545
hg1712545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1643771, nssv1643761, nssv1643765, nssv1643759, nssv1643766, nssv1643762, nssv1643769, nssv1643763, nssv1643764, nssv1643768, nssv1643772, nssv1643773, nssv1643760, nssv1643770, nssv1643767, nssv1643758
SamplesNA11881, NA12249, NA10839, NA07019, NA12864, NA12006, NA12057, NA10856, NA12872, NA10851, NA10835, NA10830, NA07022, NA11830, NA12003, NA12236
Known GenesCACNA1C
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)nsv442629
Frequency
Sample Size270
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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