A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427319



Internal ID206225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40678614..40678665hg38UCSC Ensembl
chr17:38834866..38834917hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713121
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427319
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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