A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947029



Internal ID32043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25184533..25184584hg38UCSC Ensembl
chr4:25186155..25186206hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399702
Supporting Variants
Samples
Known GenesSEPSECS-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947029
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