A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1637535



Internal ID15122732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:32825580..32830895hg38UCSC Ensembl
Innerchr8:32683098..32688413hg19UCSC Ensembl
Innerchr8:32802640..32807955hg18UCSC Ensembl
Innerchr8:32802640..32807955hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg385316
hg195316
hg185316
hg175316
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442510
Supporting Variants
SamplesNA12872
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)nssv1637535
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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