A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17840710



Internal ID22024353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113086509..113086509hg38UCSC Ensembl
chr8:114098738..114098738hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6246522
Supporting Variants
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17840710
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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