A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534510



Internal ID15158495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:100201823..100595854hg38UCSC Ensembl
Innerchr15:100742028..101136059hg19UCSC Ensembl
Innerchr15:98559551..98953582hg18UCSC Ensembl
Innerchr15:98559551..98953582hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38394032
hg19394032
hg18394032
hg17394032
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457284
Supporting Variants
SamplesHGDP00064
Known GenesADAMTS17, CERS3, LINS, PRKXP1, 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)nssv534510
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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