A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6527380



Internal ID20900741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48975862..48997570hg38UCSC Ensembl
chr19:49479119..49500827hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3821709
hg1921709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18198225
Samples
Known GenesGYS1, RUVBL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6527380
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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