A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459054



Internal ID15519119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61693013..61723194hg38UCSC Ensembl
Innerchr20:60268069..60298250hg19UCSC Ensembl
Innerchr20:59701464..59731645hg18UCSC Ensembl
Innerchr20:59701464..59731645hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3830182
hg1930182
hg1830182
hg1730182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv516n27
Supporting Variantsnssv535895
SamplesHGDP00033
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)nsv459054
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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