A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5909237



Internal ID22684447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2298528..2311681hg38UCSC Ensembl
chr12:2407694..2420847hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3813154
hg1913154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367362
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5909237
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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