A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458842



Internal ID15518907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:380145..444790hg38UCSC Ensembl
Innerchr20:360789..425434hg19UCSC Ensembl
Innerchr20:308789..373434hg18UCSC Ensembl
Innerchr20:308789..373434hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3864646
hg1964646
hg1864646
hg1764646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535724
Samples1780862101_A
Known GenesRBCK1, TBC1D20, TRIB3
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)nsv458842
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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