A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1657331



Internal ID15129164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:114305212..114307733hg38UCSC Ensembl
Innerchr3:114024059..114026580hg19UCSC Ensembl
Innerchr3:115506749..115509270hg18UCSC Ensembl
Innerchr3:115506749..115509270hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg382522
hg192522
hg182522
hg172522
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441835
Supporting Variants
SamplesNA18566
Known GenesTIGIT
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)nssv1657331
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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