A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553634



Internal ID326864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49519943..49519984hg38UCSC Ensembl
chr20:48136480..48136521hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732833
Samples
Known GenesPTGIS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553634
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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