A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194621



Internal ID20761661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117645659..117654715hg38UCSC Ensembl
chr12:118083464..118092520hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg389057
hg199057
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483989
Supporting Variants
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194621
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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