A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448053



Internal ID226338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186309194..186309280hg38UCSC Ensembl
chr3:186026983..186027069hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942601
Samples
Known GenesDGKG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448053
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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