A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445674



Internal ID224020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230699709..230702922hg38UCSC Ensembl
chr2:231564424..231567637hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383214
hg193214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925777
Samples
Known GenesLOC151475
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445674
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