A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199051



Internal ID20766091
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 StatusS
Merged Variantsnsv6519193
Supporting Variants
Samples
Known GenesLPPR3, MIR3187, PTBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199051
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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