A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434493



Internal ID213166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127528768..127537337hg38UCSC Ensembl
chr3:127247611..127256180hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388570
hg198570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939557
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434493
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