A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905490



Internal ID4471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84512496..84512547hg38UCSC Ensembl
chr1:84978179..84978230hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402160
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905490
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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