A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003566



Internal ID70000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130521045..130521096hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3876
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394790
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003566
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