A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534390



Internal ID15505525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:47786868..47915269hg38UCSC Ensembl
Innerchr15:48079065..48207466hg19UCSC Ensembl
Innerchr15:45866357..45994758hg18UCSC Ensembl
Innerchr15:45866357..45994758hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38128402
hg19128402
hg18128402
hg17128402
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457131
Supporting Variants
SamplesHGDP00148
Known Genes
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)nssv534390
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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