A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469563



Internal ID21127116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2030701..2064100hg38UCSC Ensembl
chr12:2139867..2173266hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3833400
hg1933400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186116
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469563
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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