A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535954



Internal ID15505093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:20891273..20949811hg38UCSC Ensembl
Innerchr21:22263591..22322128hg19UCSC Ensembl
Innerchr21:21185462..21243999hg18UCSC Ensembl
Innerchr21:21185462..21243999hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3858539
hg1958538
hg1858538
hg1758538
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459132
Supporting Variants
SamplesHGDP00041
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)nssv535954
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