A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457187



Internal ID15517252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:67122087..67142010hg38UCSC Ensembl
Innerchr15:67414425..67434348hg19UCSC Ensembl
Innerchr15:65201479..65221402hg18UCSC Ensembl
Innerchr15:65201479..65221402hg17UCSC Ensembl
Cytoband15q22.33
Allele length
AssemblyAllele length
hg3819924
hg1919924
hg1819924
hg1719924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534430
SamplesNINDS_197
Known GenesSMAD3
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)nsv457187
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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