A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900346



Internal ID22675487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53797562..53799577hg38UCSC Ensembl
chr3:53831589..53833604hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382016
hg192016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413047
Samples
Known GenesCACNA1D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900346
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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