A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560972



Internal ID333963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233739217..233739351hg38UCSC Ensembl
chr2:234647863..234647997hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925863
Samples
Known GenesUGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560972
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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