A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447744



Internal ID226037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231984909..231992520hg38UCSC Ensembl
chr2:232849619..232857230hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387612
hg197612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928590
Samples
Known GenesDIS3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447744
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