A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198922



Internal ID20765962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46782084..46917902hg38UCSC Ensembl
chr19:47285341..47421159hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38135819
hg19135819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6525846
Supporting Variants
Samples
Known GenesAP2S1, SLC1A5, SNAR-E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198922
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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