A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721591



Internal ID145257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13439506..13443481hg38UCSC Ensembl
chr19:13550320..13554295hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383976
hg193976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530734
Supporting Variants
Samples
Known GenesCACNA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721591
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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