A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450687



Internal ID228887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33352437..33357714hg38UCSC Ensembl
chr2:33577504..33582781hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg385278
hg195278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912341
Samples
Known GenesLTBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450687
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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