A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457281



Internal ID15517346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:99817230..100057086hg38UCSC Ensembl
Innerchr15:100357435..100597291hg19UCSC Ensembl
Innerchr15:98174958..98414814hg18UCSC Ensembl
Innerchr15:98174958..98414814hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38239857
hg19239857
hg18239857
hg17239857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv332n27
Supporting Variantsnssv534508
SamplesHGDP01094
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)nsv457281
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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