A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197316



Internal ID20764356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32957638..32966293hg38UCSC Ensembl
chr19:33448544..33457199hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg388656
hg198656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6528532
Supporting Variants
Samples
Known GenesCEP89
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197316
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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