A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199593



Internal ID20766633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48622514..48797442hg38UCSC Ensembl
chr19:49125771..49300699hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38174929
hg19174929
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6529545
Supporting Variants
Samples
Known GenesBCAT2, CA11, DBP, FGF21, FUT1, FUT2, IZUMO1, MAMSTR, NTN5, RASIP1, SEC1P, SPHK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199593
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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