A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17438563



Internal ID22496433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:85568099..85572645hg38UCSC Ensembl
chr9:88183014..88187560hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg384547
hg194547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5907718
Supporting Variants
Samples
Known GenesAGTPBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17438563
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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