A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442346



Internal ID15501065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73564786..73583560hg38UCSC Ensembl
Innerchr14:74031490..74050264hg19UCSC Ensembl
Innerchr14:73101243..73120017hg18UCSC Ensembl
Innerchr14:73101243..73120017hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3818775
hg1918775
hg1818775
hg1718775
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659809, nssv1659808, nssv1659810
SamplesNA10851, NA19098, NA12057
Known GenesACOT2
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)nsv442346
Frequency
Sample Size270
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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