A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054875



Internal ID104424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2679317..2679369hg38UCSC Ensembl
chr12:2788483..2788535hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507968
Supporting Variants
Samples
Known GenesCACNA1C, CACNA1C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054875
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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