A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195307



Internal ID20762347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2404357..2413635hg38UCSC Ensembl
chr12:2513523..2522801hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389279
hg199279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467052
Supporting Variants
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195307
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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