A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984130



Internal ID56793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73284242..73288701hg38UCSC Ensembl
chr6:73993965..73998424hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg384460
hg194460
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459422
Supporting Variants
Samples
Known GenesC6orf147, KHDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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