A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535866



Internal ID15157299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56694268..56769998hg38UCSC Ensembl
Innerchr20:55269324..55345054hg19UCSC Ensembl
Innerchr20:54702731..54778461hg18UCSC Ensembl
Innerchr20:54702731..54778461hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3875731
hg1975731
hg1875731
hg1775731
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459024
Supporting Variants
Samples1780862484_A
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)nssv535866
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