A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535733



Internal ID15502369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:6306009..6380626hg38UCSC Ensembl
Innerchr20:6286656..6361273hg19UCSC Ensembl
Innerchr20:6234656..6309273hg18UCSC Ensembl
Innerchr20:6234656..6309273hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3874618
hg1974618
hg1874618
hg1774618
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458859
Supporting Variants
Samples1780854327_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)nssv535733
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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