A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17840708



Internal ID22024351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112926469..112926469hg38UCSC Ensembl
chr8:113938698..113938698hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6246520
Supporting Variants
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17840708
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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