A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485043



Internal ID21142596
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 StatusM
Merged Variants
Supporting Variantsnssv18194877
Samples
Known GenesGCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485043
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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