A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445164



Internal ID223522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233687740..233692406hg38UCSC Ensembl
chr2:234596386..234601052hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384667
hg194667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925856
Samples
Known GenesUGT1A10, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445164
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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