A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451428



Internal ID229610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109143423..109143491hg38UCSC Ensembl
chr2:109759879..109759947hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917899
Samples
Known GenesSH3RF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451428
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