A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1656655



Internal ID15131351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47247989..47263416hg38UCSC Ensembl
Innerchr1:47713661..47729088hg19UCSC Ensembl
Innerchr1:47486248..47501675hg18UCSC Ensembl
Innerchr1:47425681..47441108hg17UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3815428
hg1915428
hg1815428
hg1715428
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441692
Supporting Variants
SamplesNA18608
Known GenesSTIL
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)nssv1656655
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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