A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199582



Internal ID20766622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48517905..48611709hg38UCSC Ensembl
chr19:49021162..49114966hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3893805
hg1993805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6517019
Supporting Variants
Samples
Known GenesFAM83E, SPACA4, SULT2B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199582
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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