A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199697



Internal ID20766737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5714517..5728912hg38UCSC Ensembl
chr19:5714528..5728923hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3814396
hg1914396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6521308
Supporting Variants
Samples
Known GenesCATSPERD, LONP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199697
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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