A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904879



Internal ID4073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44873960..44874100hg38UCSC Ensembl
chr1:45339632..45339772hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429285
Supporting Variants
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904879
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005151


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