A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013483



Internal ID76663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86484665..86485340hg38UCSC Ensembl
chr8:87496894..87497569hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38676
hg19676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482226
Supporting Variants
Samples
Known GenesRMDN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013483
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