A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460390



Internal ID238375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130346387..130346583hg38UCSC Ensembl
chr5:129682080..129682276hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974333
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460390
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