A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484232



Internal ID261649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138828198..138830943hg38UCSC Ensembl
chr7:138512943..138515688hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382746
hg192746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006311
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484232
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