A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6257841



Internal ID22062451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83693791..83693791hg38UCSC Ensembl
chr9:86308706..86308706hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840848
Samples
Known GenesUBQLN1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6257841
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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