A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178546



Internal ID20745586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1854897..1920656hg38UCSC Ensembl
chr12:1964063..2029822hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3865760
hg1965760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470861
Supporting Variants
Samples
Known GenesCACNA2D4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178546
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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