A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494734



Internal ID21152287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23953586..24036284hg38UCSC Ensembl
chr14:24422795..24505493hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3882699
hg1982699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181060
Samples
Known GenesDHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494734
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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