A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427589



Internal ID206491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19298487..19299633hg38UCSC Ensembl
chr1:19624981..19626127hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899105
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427589
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