A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459053



Internal ID15519118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61693013..61721678hg38UCSC Ensembl
Innerchr20:60268069..60296734hg19UCSC Ensembl
Innerchr20:59701464..59730129hg18UCSC Ensembl
Innerchr20:59701464..59730129hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3828666
hg1928666
hg1828666
hg1728666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv516n27
Supporting Variantsnssv535894
SamplesHGDP00161
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)nsv459053
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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