A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457559



Internal ID21115112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2054301..2705500hg38UCSC Ensembl
chr12:2163467..2814666hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38651200
hg19651200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182247
Samples
Known GenesCACNA1C, CACNA1C-AS1, CACNA1C-AS4, CACNA1C-IT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457559
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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