A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458346



Internal ID236375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179113179..179136718hg38UCSC Ensembl
chr5:178540180..178563719hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3823540
hg1923540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976890
Samples
Known GenesADAMTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458346
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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