A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426004



Internal ID204950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69050752..69050803hg38UCSC Ensembl
chr17:67046893..67046944hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714249
Samples
Known GenesABCA9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426004
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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