A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399035



Internal ID178429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227560544..227560595hg38UCSC Ensembl
chr2:228425260..228425311hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926182
Samples
Known GenesAGFG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399035
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer