A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535834



Internal ID15506544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45709047..45749938hg38UCSC Ensembl
Innerchr20:44337686..44378577hg19UCSC Ensembl
Innerchr20:43771100..43811984hg18UCSC Ensembl
Innerchr20:43771100..43811984hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3840892
hg1940892
hg1840885
hg1740885
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458986
Supporting Variants
SamplesHGDP00522
Known GenesSPINT4
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)nssv535834
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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