A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971146



Internal ID22746081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13318890..13318890hg38UCSC Ensembl
chr19:13429704..13429704hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405938
Samples
Known GenesCACNA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971146
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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