A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6039406



Internal ID21948749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2280438..2280715hg38UCSC Ensembl
chr12:2389604..2389881hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17600689
Samples
Known GenesCACNA1C, CACNA1C-IT3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6039406
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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