A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721587



Internal ID145253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13411998..13413354hg38UCSC Ensembl
chr19:13522812..13524168hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381357
hg191357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529058
Supporting Variants
Samples
Known GenesCACNA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721587
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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