A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418250



Internal ID197427
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 StatusM
Merged Variants
Supporting Variantsnssv16904878
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418250
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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