A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178592



Internal ID20745632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:44799214..44812603hg38UCSC Ensembl
chr14:45268417..45281806hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3813390
hg1913390
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487237
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178592
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00041


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