A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246802



Internal ID22051412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:3983637..3983637hg38UCSC Ensembl
chr9:3983637..3983637hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840487
Samples
Known GenesGLIS3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246802
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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