A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448825



Internal ID227084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227553432..227553524hg38UCSC Ensembl
chr2:228418148..228418240hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926180
Samples
Known GenesAGFG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448825
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