A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723273



Internal ID146939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38735538..38736790hg38UCSC Ensembl
chr19:39226178..39227430hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381253
hg191253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145278
Supporting Variants
Samples
Known GenesCAPN12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723273
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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