A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556514



Internal ID329651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68996984..69126483hg38UCSC Ensembl
chr4:69862702..69992201hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38129500
hg19129500
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950559
Samples
Known GenesUGT2B10, UGT2B7
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556514
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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