A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973382



Internal ID49635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122136352..122136403hg38UCSC Ensembl
chr5:121472047..121472098hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412867
Supporting Variants
Samples
Known GenesZNF474
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973382
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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