A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194877



Internal ID20761917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54901601..54903600hg38UCSC Ensembl
chr14:55368319..55370318hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485043
Supporting Variants
Samples
Known GenesGCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194877
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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