A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485585



Internal ID21143138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23988494..24036101hg38UCSC Ensembl
chr14:24457703..24505310hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3847608
hg1947608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182093
Samples
Known GenesDHRS4L1, DHRS4L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485585
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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