A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015819



Internal ID78192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102867906..102867954hg38UCSC Ensembl
chr8:103880134..103880182hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553367
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015819
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.29488


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