A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535901



Internal ID15506459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62315508..62400494hg38UCSC Ensembl
Innerchr20:60890564..60975550hg19UCSC Ensembl
Innerchr20:60323959..60408945hg18UCSC Ensembl
Innerchr20:60323959..60408945hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3884987
hg1984987
hg1884987
hg1784987
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459060
Supporting Variants
SamplesHGDP00491
Known GenesCABLES2, LAMA5, MIR4758, RPS21
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)nssv535901
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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