A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521162



Internal ID297459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54278874..54297000hg38UCSC Ensembl
chr19:54782729..54800678hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3818127
hg1917950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725512
Samples
Known GenesLILRA3, LILRB2, MIR4752
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521162
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer