A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684077



Internal ID107743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90172703..90172754hg38UCSC Ensembl
chr12:90566480..90566531hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427232
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684077
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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