A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143350



Internal ID342551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24105713..24171713hg38UCSC Ensembl
chr14:24574922..24640922hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3866001
hg1966001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693425
Samples
Known GenesDCAF11, EMC9, FITM1, IRF9, MIR7703, PSME1, PSME2, RNF31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143350
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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