A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688814



Internal ID112480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68124211..68124272hg38UCSC Ensembl
chr12:68517991..68518052hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494103
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688814
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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