A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010330



Internal ID74517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23225519..23227817hg38UCSC Ensembl
chr8:23083032..23085330hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382299
hg192299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142412
Supporting Variants
Samples
Known GenesLOC389641
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010330
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012961


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