A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6099980



Internal ID22009213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2280300..2280300hg38UCSC Ensembl
chr12:2389466..2389466hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17606962
Samples
Known GenesCACNA1C, CACNA1C-IT3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6099980
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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