A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442301



Internal ID15501020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133141855..133201603hg38UCSC Ensembl
Innerchr12:133718441..133778189hg19UCSC Ensembl
Innerchr12:132228514..132288262hg18UCSC Ensembl
Innerchr12:132328791..132388539hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3859749
hg1959749
hg1859749
hg1759749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659621, nssv1659623, nssv1659624, nssv1659622
SamplesNA19238, NA18914, NA18913, NA19240
Known GenesZNF10, ZNF268
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)nsv442301
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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