A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427729



Internal ID206625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49025982..49031943hg38UCSC Ensembl
chr1:49491654..49497615hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg385962
hg195962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904940
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427729
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