A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458863



Internal ID15518928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8115483..8595024hg38UCSC Ensembl
Innerchr20:8096130..8575671hg19UCSC Ensembl
Innerchr20:8044130..8523671hg18UCSC Ensembl
Innerchr20:8044130..8523671hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38479542
hg19479542
hg18479542
hg17479542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535735
SamplesNINDS_129
Known GenesPLCB1
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)nsv458863
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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