A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459304



Internal ID15172683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45320104..45419989hg38UCSC Ensembl
Innerchr21:46740019..46839904hg19UCSC Ensembl
Innerchr21:45564447..45664332hg18UCSC Ensembl
Innerchr21:45564447..45664332hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3899886
hg1999886
hg1899886
hg1799886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv537n27
Supporting Variantsnssv536080
SamplesHGDP00137
Known GenesCOL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316
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)nsv459304
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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