A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6043890



Internal ID21953181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13382902..13387541hg38UCSC Ensembl
chr19:13493716..13498355hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384640
hg194640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17634205
Samples
Known GenesCACNA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6043890
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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