A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057793



Internal ID106385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56849498..56857397hg38UCSC Ensembl
chr12:57243282..57251181hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg387900
hg197900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503895
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057793
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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