A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523678



Internal ID20897039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48930100..48957529hg38UCSC Ensembl
chr19:49433357..49460786hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3827430
hg1927430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18198223
Samples
Known GenesBAX, DHDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523678
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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