A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444193



Internal ID222573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191225834..191310390hg38UCSC Ensembl
chr3:190943623..191028179hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3884557
hg1984557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942775
Samples
Known GenesOSTN, UTS2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444193
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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