A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972429



Internal ID48976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:98480421..98583812hg38UCSC Ensembl
chr5:97816125..97919516hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38103392
hg19103392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473913
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972429
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer