A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730621



Internal ID154287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6594855..6594855hg38UCSC Ensembl
chr20:6575502..6575502hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429348
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730621
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.022353


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