A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1646603



Internal ID15486497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19732024..19955213hg38UCSC Ensembl
Innerchr14:20200183..20423372hg19UCSC Ensembl
Innerchr14:19270023..19493212hg18UCSC Ensembl
Innerchr14:19270023..19493212hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38223190
hg19223190
hg18223190
hg17223190
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442679
Supporting Variants
SamplesNA18969
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)nssv1646603
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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