A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456121



Internal ID15516186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110931075..111007766hg38UCSC Ensembl
Innerchr13:111583422..111660113hg19UCSC Ensembl
Innerchr13:110381423..110458114hg18UCSC Ensembl
Innerchr13:110381423..110458114hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3876692
hg1976692
hg1876692
hg1776692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533524
SamplesHGDP00977
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv456121
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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