A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973355



Internal ID49616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120033692..120047314hg38UCSC Ensembl
chr5:119369387..119383009hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3813623
hg1913623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141375
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973355
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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