A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410529



Internal ID189844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:85585725..85585776hg38UCSC Ensembl
chr9:88200640..88200691hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17024624
Samples
Known GenesAGTPBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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