A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514049



Internal ID290553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2989293..2991329hg38UCSC Ensembl
chr20:2969939..2971975hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382037
hg192037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730361
Samples
Known GenesPTPRA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514049
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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