A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181591



Internal ID20748631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45059686..46005063hg38UCSC Ensembl
chr14:45528889..46474266hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38945378
hg19945378
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478987
Supporting Variants
Samples
Known GenesFAM179B, FANCM, FKBP3, MIS18BP1, PRPF39, SNORD127
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181591
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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