A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17030094



Internal ID87781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133430337..133430441hg38UCSC Ensembl
chr9:136295457..136295561hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490289
Supporting Variants
Samples
Known GenesADAMTS13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17030094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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