A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16982246



Internal ID55515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21716194..21720966hg38UCSC Ensembl
chr6:21716425..21721197hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg384773
hg194773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456527
Supporting Variants
Samples
Known GenesCASC15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16982246
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