A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016123



Internal ID78396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96533561..96533710hg38UCSC Ensembl
chr8:97545789..97545938hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491655
Supporting Variants
Samples
Known GenesSDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00359


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