A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731274



Internal ID154940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16865556..16865607hg38UCSC Ensembl
chr20:16846201..16846252hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423123
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731274
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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