A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421554



Internal ID200622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46563064..46563414hg38UCSC Ensembl
chr1:47028736..47029086hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901877
Samples
Known GenesMKNK1, MKNK1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421554
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