A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054878



Internal ID104425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2685000..2742000hg38UCSC Ensembl
chr12:2794166..2851166hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3857001
hg1957001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509348
Supporting Variants
Samples
Known GenesCACNA1C, CACNA1C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054878
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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