A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6519117



Internal ID20892478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45120104..45167569hg38UCSC Ensembl
chr19:45623362..45670827hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3847466
hg1947466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18198868
Samples
Known GenesNKPD1, PPP1R37, TRAPPC6A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6519117
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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