A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684685



Internal ID108351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116385754..116385805hg38UCSC Ensembl
chr12:116823559..116823610hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560975
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684685
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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