A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555473



Internal ID328629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:84020343..84020345hg38UCSC Ensembl
chr4:84941496..84941498hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953569
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555473
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