A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6518347



Internal ID20891708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5519830..5914520hg38UCSC Ensembl
chr19:5519841..5914531hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38394691
hg19394691
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199621
Samples
Known GenesC19orf70, CAPS, CATSPERD, DUS3L, FUT3, FUT5, FUT6, HSD11B1L, LONP1, NDUFA11, NRTN, PRR22, RPL36, SAFB, SAFB2, TINCR, VMAC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6518347
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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