A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435789



Internal ID214421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187935002..188115213hg38UCSC Ensembl
chr2:188799729..188979940hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38180212
hg19180212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921968
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435789
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