A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684699



Internal ID108365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116572538..116574377hg38UCSC Ensembl
chr12:117010343..117012182hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381840
hg191840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511302
Supporting Variants
Samples
Known GenesMAP1LC3B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684699
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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