A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556343



Internal ID329482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10640593..10647080hg38UCSC Ensembl
chr8:10498103..10504590hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386488
hg196488
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007407
Samples
Known GenesRP1L1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556343
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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