A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689365



Internal ID113031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79040128..79212128hg38UCSC Ensembl
chr12:79433908..79605908hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38172001
hg19172001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143866
Supporting Variants
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689365
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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