A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536021



Internal ID15510409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:24180899..24219039hg38UCSC Ensembl
Innerchr21:25553212..25591352hg19UCSC Ensembl
Innerchr21:24475083..24513223hg18UCSC Ensembl
Innerchr21:24475083..24513223hg17UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg3838141
hg1938141
hg1838141
hg1738141
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459210
Supporting Variants
SamplesHGDP01240
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)nssv536021
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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