A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200193



Internal ID20767233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53532476..53679111hg38UCSC Ensembl
chr19:54035730..54182365hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38146636
hg19146636
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519961
Supporting Variants
Samples
Known GenesDPRX, LOC284379, MIR1323, MIR498, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR520E, ZNF331
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200193
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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