A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187213



Internal ID20754253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54394201..54399300hg38UCSC Ensembl
chr14:54860919..54866018hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491455
Supporting Variants
Samples
Known GenesCDKN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187213
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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