A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925871



Internal ID17999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233770878..233770929hg38UCSC Ensembl
chr2:234679524..234679575hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558450
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)nssv16925871
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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