A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6524787



Internal ID20898148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:840133..915536hg38UCSC Ensembl
chr19:840133..915536hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3875404
hg1975404
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199066
Samples
Known GenesCFD, ELANE, MED16, PRTN3, R3HDM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6524787
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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