A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1623237



Internal ID15126188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46760327..46807791hg38UCSC Ensembl
Innerchr3:46801817..46849281hg19UCSC Ensembl
Innerchr3:46776821..46824285hg18UCSC Ensembl
Innerchr3:46776821..46824285hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3847465
hg1947465
hg1847465
hg1747465
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442859
Supporting Variants
SamplesNA18522
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)nssv1623237
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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