A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489413



Internal ID21146966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23967701..24005400hg38UCSC Ensembl
chr14:24436910..24474609hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3837700
hg1937700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2066n223
Supporting Variantsnssv18179536
Samples
Known GenesDHRS4, DHRS4L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489413
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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