A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198705



Internal ID20765745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54806601..55041200hg38UCSC Ensembl
chr19:55318056..55552568hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38234600
hg19234513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6516491
Supporting Variants
Samples
Known GenesFCAR, GP6, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534, NCR1, NLRP2, NLRP7, RNU6-35P, RNU6-64P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198705
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0003


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