A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939448



Internal ID27010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119434443..119434494hg38UCSC Ensembl
chr3:119153290..119153341hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559543
Supporting Variants
Samples
Known GenesTMEM39A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939448
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