A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010880



Internal ID74890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48365048..48366910hg38UCSC Ensembl
chr8:49277608..49279470hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381863
hg191863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477714
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010880
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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