A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17437130



Internal ID22495000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133430786..133431790hg38UCSC Ensembl
chr9:136295906..136296911hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381005
hg191006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5923005
Supporting Variants
Samples
Known GenesADAMTS13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17437130
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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