A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970351



Internal ID47560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142979023..142981418hg38UCSC Ensembl
chr6:143300160..143302555hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg382396
hg192396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457216
Supporting Variants
Samples
Known GenesLOC100507489
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970351
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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