A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446200



Internal ID224528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134162357..134197737hg38UCSC Ensembl
chr2:134919928..134955308hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3835381
hg1935381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919308
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446200
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