A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488467



Internal ID21146020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29470234..29477933hg38UCSC Ensembl
chr14:29939440..29947139hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg387700
hg197700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191658
Samples
Known GenesMIR548AI
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488467
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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