A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459007



Internal ID15519072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53358752..53416255hg38UCSC Ensembl
Innerchr20:51975291..52032794hg19UCSC Ensembl
Innerchr20:51408698..51466201hg18UCSC Ensembl
Innerchr20:51408698..51466201hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3857504
hg1957504
hg1857504
hg1757504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535852
SamplesHGDP00228
Known GenesTSHZ2
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)nsv459007
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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