A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17617242



Internal ID21809289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79293405..79293405hg38UCSC Ensembl
chr12:79687185..79687185hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6085392
Supporting Variants
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17617242
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer