A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443121



Internal ID221524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178450414..178451048hg38UCSC Ensembl
chr2:179315141..179315775hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922580
Samples
Known GenesMIR548N, PRKRA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443121
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