A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543100



Internal ID195160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50941309..50941309hg38UCSC Ensembl
chr20:49557846..49557846hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732910
Samples
Known GenesDPM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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