A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852813



Internal ID22036456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179574220..179574220hg38UCSC Ensembl
chr3:179292008..179292008hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6260059
Supporting Variants
Samples
Known GenesACTL6A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852813
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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