A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442327



Internal ID15501046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20496117..20503623hg38UCSC Ensembl
Innerchr14:20964276..20971782hg19UCSC Ensembl
Innerchr14:20034116..20041622hg18UCSC Ensembl
Innerchr14:20034116..20041622hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg387507
hg197507
hg187507
hg177507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659728, nssv1659727
SamplesNA06993, NA07056
Known Genes
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)nsv442327
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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