A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6519193



Internal ID20892554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:809345..818601hg38UCSC Ensembl
chr19:809345..818601hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg389257
hg199257
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199051
Samples
Known GenesLPPR3, MIR3187, PTBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6519193
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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