A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534513



Internal ID15507655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:100299689..100413206hg38UCSC Ensembl
Innerchr15:100839894..100953411hg19UCSC Ensembl
Innerchr15:98657417..98770934hg18UCSC Ensembl
Innerchr15:98657417..98770934hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38113518
hg19113518
hg18113518
hg17113518
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457287
Supporting Variants
SamplesHGDP00692
Known GenesADAMTS17, CERS3, SPATA41
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)nssv534513
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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