A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948213



Internal ID32842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13986030..14031467hg38UCSC Ensembl
chr4:13987654..14033091hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3845438
hg1945438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447062
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948213
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