A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5661796



Internal ID21610101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2280549..2280549hg38UCSC Ensembl
chr12:2389715..2389715hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079500
SamplesHG03486
Known GenesCACNA1C, CACNA1C-IT3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5661796
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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