A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441947



Internal ID15153980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106974..32158349hg38UCSC Ensembl
Innerchr5:32107080..32158455hg19UCSC Ensembl
Innerchr5:32142837..32194212hg18UCSC Ensembl
Innerchr5:32142837..32194212hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3851376
hg1951376
hg1851376
hg1751376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657883, nssv1657884, nssv1657888, nssv1657887, nssv1657891, nssv1657889, nssv1657890, nssv1657885, nssv1657886
SamplesNA18951, NA18526, NA12264, NA18632, NA18998, NA18959, NA18637, NA18562, NA12248
Known GenesGOLPH3, PDZD2
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)nsv441947
Frequency
Sample Size270
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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