A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179366



Internal ID20746406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:44893801..44900300hg38UCSC Ensembl
chr14:45363004..45369503hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483358
Supporting Variants
Samples
Known GenesC14orf28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179366
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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