A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459303



Internal ID15519368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45300095..45428674hg38UCSC Ensembl
Innerchr21:46720010..46848589hg19UCSC Ensembl
Innerchr21:45544438..45673017hg18UCSC Ensembl
Innerchr21:45544438..45673017hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38128580
hg19128580
hg18128580
hg17128580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv537n27
Supporting Variantsnssv536079
SamplesHGDP00066
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)nsv459303
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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