A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5836620



Internal ID22611555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53797523..53799579hg38UCSC Ensembl
chr3:53831550..53833606hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382057
hg192057
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17493259
Samples
Known GenesCACNA1D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5836620
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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