A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925869



Internal ID17997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233762430..233763136hg38UCSC Ensembl
chr2:234671076..234671782hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443355
Supporting Variants
Samples
Known GenesUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925869
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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