A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451012



Internal ID229203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20186032..20186919hg38UCSC Ensembl
chr2:20385793..20386680hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38888
hg19888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911133
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451012
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