A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535937



Internal ID15508505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18685601..18710901hg38UCSC Ensembl
Innerchr21:20057919..20083219hg19UCSC Ensembl
Innerchr21:18979790..19005090hg18UCSC Ensembl
Innerchr21:18979790..19005090hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3825301
hg1925301
hg1825301
hg1725301
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459113
Supporting Variants
SamplesHGDP00856
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)nssv535937
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer