A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541349



Internal ID315968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2214735..2214735hg38UCSC Ensembl
chr12:2323901..2323901hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381326
hg191326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054854
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541349
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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