A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459058



Internal ID15519123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61715436..61742162hg38UCSC Ensembl
Innerchr20:60290492..60317218hg19UCSC Ensembl
Innerchr20:59723887..59750613hg18UCSC Ensembl
Innerchr20:59723887..59750613hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3826727
hg1926727
hg1826727
hg1726727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv517n27
Supporting Variantsnssv535899
SamplesHGDP00341
Known GenesCDH4
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)nsv459058
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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