A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972948



Internal ID49334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115483576..115483627hg38UCSC Ensembl
chr5:114819273..114819324hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562723
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972948
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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