A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16940633



Internal ID27799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:154528533..156057304hg38UCSC Ensembl
chr3:154246322..155775093hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg381528772
hg191528772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445714
Supporting Variants
Samples
Known GenesC3orf33, GMPS, LOC100507537, MME, PLCH1, SLC33A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16940633
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