A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056215



Internal ID105299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19724650..19732650hg38UCSC Ensembl
chr12:19877584..19885584hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143064
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056215
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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