A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442343



Internal ID15154376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:64548935..64552811hg38UCSC Ensembl
Innerchr14:65015653..65019529hg19UCSC Ensembl
Innerchr14:64085406..64089282hg18UCSC Ensembl
Innerchr14:64085406..64089282hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg383877
hg193877
hg183877
hg173877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659799, nssv1659797, nssv1659798
SamplesNA12239, NA12156, NA11993
Known GenesPPP1R36
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)nsv442343
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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