A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198289



Internal ID20765329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50790201..50799600hg38UCSC Ensembl
chr19:51293458..51302857hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg389400
hg199400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524541
Supporting Variants
Samples
Known GenesACPT, C19orf48, SNORD88A, SNORD88B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198289
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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