A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535245



Internal ID15510311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:70658460..71275327hg38UCSC Ensembl
Innerchr18:68325696..68942563hg19UCSC Ensembl
Innerchr18:66476676..67093543hg18UCSC Ensembl
Innerchr18:66476676..67093543hg17UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38616868
hg19616868
hg18616868
hg17616868
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458281
Supporting Variants
SamplesHGDP01228
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)nssv535245
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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