A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459050



Internal ID15519115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61397832..61416793hg38UCSC Ensembl
Innerchr20:59972888..59991849hg19UCSC Ensembl
Innerchr20:59406283..59425244hg18UCSC Ensembl
Innerchr20:59406283..59425244hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3818962
hg1918962
hg1818962
hg1718962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535891
SamplesHGDP00251
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)nsv459050
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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