A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054972



Internal ID104484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5498674..5498812hg38UCSC Ensembl
chr12:5607840..5607978hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498730
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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