A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535727



Internal ID15503508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:611050..630017hg38UCSC Ensembl
Innerchr20:591694..610661hg19UCSC Ensembl
Innerchr20:539694..558661hg18UCSC Ensembl
Innerchr20:539694..558661hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3818968
hg1918968
hg1818968
hg1718968
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458846
Supporting Variants
Samples1780862306_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)nssv535727
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