A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483754



Internal ID21141307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54538117..54540406hg38UCSC Ensembl
chr14:55004835..55007124hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg382290
hg192290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192177
Samples
Known GenesCGRRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483754
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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