A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975212



Internal ID50861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154075746..154079197hg38UCSC Ensembl
chr5:153455306..153458757hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg383452
hg193452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457070
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975212
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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