A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483618



Internal ID261053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22031708..22035526hg38UCSC Ensembl
chr8:21889219..21893037hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383819
hg193819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010218
Samples
Known GenesNPM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483618
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