A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433525



Internal ID212238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84726343..84726511hg38UCSC Ensembl
chr1:85192026..85192194hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905507
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433525
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