A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536020



Internal ID15510211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:24180899..24218972hg38UCSC Ensembl
Innerchr21:25553212..25591285hg19UCSC Ensembl
Innerchr21:24475083..24513156hg18UCSC Ensembl
Innerchr21:24475083..24513156hg17UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg3838074
hg1938074
hg1838074
hg1738074
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459209
Supporting Variants
SamplesHGDP01207
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)nssv536020
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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