A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012919



Internal ID76283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78416386..78424807hg38UCSC Ensembl
chr8:79328621..79337042hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg388422
hg198422
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561434
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012919
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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