A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535732



Internal ID15506793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:5494255..5507998hg38UCSC Ensembl
Innerchr20:5474901..5488644hg19UCSC Ensembl
Innerchr20:5422901..5436644hg18UCSC Ensembl
Innerchr20:5422901..5436644hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3813744
hg1913744
hg1813744
hg1713744
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458856
Supporting Variants
SamplesHGDP00556
Known GenesLINC00654
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)nssv535732
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