A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17840698



Internal ID22024341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112322154..112322154hg38UCSC Ensembl
chr8:113334383..113334383hg19UCSC 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 Variantsnsv6246510
Supporting Variants
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17840698
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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