A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6520484



Internal ID20893845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48004079..48034681hg38UCSC Ensembl
chr19:48507336..48537938hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3830603
hg1930603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18198968
Samples
Known GenesCABP5, ELSPBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6520484
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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