A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1637172



Internal ID15133240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15545551..15554097hg38UCSC Ensembl
Innerchr8:15403060..15411606hg19UCSC Ensembl
Innerchr8:15447431..15455977hg18UCSC Ensembl
Innerchr8:15447431..15455977hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg388547
hg198547
hg188547
hg178547
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442472
Supporting Variants
SamplesNA18637
Known GenesTUSC3
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)nssv1637172
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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