A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445566



Internal ID223912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130815797..130815945hg38UCSC Ensembl
chr3:130534641..130534789hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937699
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445566
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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