A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6516967



Internal ID20890328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55332147..55405383hg38UCSC Ensembl
chr19:55843515..55916751hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3873237
hg1973237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199626
Samples
Known GenesCOX6B2, FAM71E2, IL11, MIR6805, RPL28, SUV420H2, TMEM190, TMEM238, UBE2S
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6516967
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer