A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459067



Internal ID15519132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62387568..62415019hg38UCSC Ensembl
Innerchr20:60962624..60990075hg19UCSC Ensembl
Innerchr20:60396019..60423470hg18UCSC Ensembl
Innerchr20:60396019..60423470hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3827452
hg1927452
hg1827452
hg1727452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535906
SamplesHGDP00655
Known GenesCABLES2, RBBP8NL, RPS21
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)nsv459067
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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