A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551070



Internal ID324556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49940416..49940452hg38UCSC Ensembl
chr17:48017780..48017816hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724677
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551070
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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