A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16985382



Internal ID57662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89797111..89801164hg38UCSC Ensembl
chr6:90506830..90510883hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg384054
hg194054
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466640
Supporting Variants
Samples
Known GenesMDN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16985382
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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