A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493736



Internal ID21151289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57203867..58132081hg38UCSC Ensembl
chr14:57670585..58598799hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38928215
hg19928215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186843
Samples
Known GenesAP5M1, C14orf105, C14orf37, EXOC5, NAA30, SLC35F4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493736
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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