A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17630103



Internal ID21822150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13381387..13381387hg38UCSC Ensembl
chr19:13492201..13492201hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6111306
Supporting Variants
Samples
Known GenesCACNA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17630103
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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