A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6518982



Internal ID20892343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45689667..45700399hg38UCSC Ensembl
chr19:46192925..46203657hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3810733
hg1910733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18198896
Samples
Known GenesQPCTL, SNRPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6518982
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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