A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890599



Internal ID167910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152548587..152616587hg38UCSC Ensembl
chr1:152521063..152589063hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3868001
hg1968001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6137870
Supporting Variants
Samples
Known GenesLCE3B, LCE3C, LCE3D, LCE3E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890599
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.258034


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