A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904878



Internal ID4072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44867859..44868071hg38UCSC Ensembl
chr1:45333531..45333743hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418250
Supporting Variants
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904878
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