A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684074



Internal ID107740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90137157..90137208hg38UCSC Ensembl
chr12:90530934..90530985hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560225
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684074
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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