A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459061



Internal ID15519126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62322665..62412954hg38UCSC Ensembl
Innerchr20:60897721..60988010hg19UCSC Ensembl
Innerchr20:60331116..60421405hg18UCSC Ensembl
Innerchr20:60331116..60421405hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3890290
hg1990290
hg1890290
hg1790290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv518n27
Supporting Variantsnssv535902
SamplesHGDP01351
Known GenesCABLES2, LAMA5, MIR4758, 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)nsv459061
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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