A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146149



Internal ID345354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58403683..58413868hg38UCSC Ensembl
chr14:58870401..58880586hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3810186
hg1910186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695879
Samples
Known GenesTIMM9, TOMM20L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146149
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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