A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181204



Internal ID20748244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48259154..48266119hg38UCSC Ensembl
chr14:48728357..48735322hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg386966
hg196966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475761
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181204
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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