A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482191



Internal ID21139744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73531601..73581300hg38UCSC Ensembl
chr14:73998305..74048004hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3849700
hg1949700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194253
Samples
Known GenesACOT1, ACOT2, HEATR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482191
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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