A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939578



Internal ID27109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127810847..127811279hg38UCSC Ensembl
chr3:127529690..127530122hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452518
Supporting Variants
Samples
Known GenesMGLL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939578
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.071027


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