A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943321



Internal ID29533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184180201..184180846hg38UCSC Ensembl
chr3:183897989..183898634hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448183
Supporting Variants
Samples
Known GenesAP2M1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943321
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