A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055221



Internal ID104651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41673000..41705000hg38UCSC Ensembl
chr12:42066802..42098802hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3832001
hg1932001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505682
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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