A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457282



Internal ID15170661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:99817230..100224933hg38UCSC Ensembl
Innerchr15:100357435..100765138hg19UCSC Ensembl
Innerchr15:98174958..98582661hg18UCSC Ensembl
Innerchr15:98174958..98582661hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38407704
hg19407704
hg18407704
hg17407704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv333n27
Supporting Variantsnssv534509
SamplesHGDP00686
Known GenesADAMTS17
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)nsv457282
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer