A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1646660



Internal ID15134847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20881447..20941822hg38UCSC Ensembl
Innerchr14:21349606..21409981hg19UCSC Ensembl
Innerchr14:20419446..20479821hg18UCSC Ensembl
Innerchr14:20419446..20479821hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3860376
hg1960376
hg1860376
hg1760376
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442680
Supporting Variants
SamplesNA18860
Known GenesECRP, RNASE3
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)nssv1646660
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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