A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487459



Internal ID264797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:52853373..52919295hg38UCSC Ensembl
chr7:52921066..52986988hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3865923
hg1965923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16996361
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487459
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