A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472960



Internal ID250662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177085464..177086804hg38UCSC Ensembl
chr5:176512465..176513805hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381341
hg191341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735473
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472960
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