A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535939



Internal ID15509659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18685601..18717786hg38UCSC Ensembl
Innerchr21:20057919..20090104hg19UCSC Ensembl
Innerchr21:18979790..19011975hg18UCSC Ensembl
Innerchr21:18979790..19011975hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3832186
hg1932186
hg1832186
hg1732186
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459115
Supporting Variants
SamplesHGDP01059
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)nssv535939
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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