A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445227



Internal ID223583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47550125..47556019hg38UCSC Ensembl
chr2:47777264..47783158hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385895
hg195895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912968
Samples
Known GenesKCNK12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445227
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