A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1623919



Internal ID15464165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128676647..128693488hg38UCSC Ensembl
Innerchr3:128395490..128412331hg19UCSC Ensembl
Innerchr3:129878180..129895021hg18UCSC Ensembl
Innerchr3:129878188..129895029hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3816842
hg1916842
hg1816842
hg1716842
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442874
Supporting Variants
SamplesNA12057
Known Genes
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)nssv1623919
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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