A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536282



Internal ID311785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1133537..1133575hg38UCSC Ensembl
chr20:1114180..1114218hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730236
Samples
Known GenesPSMF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536282
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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