A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486187



Internal ID21143740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23966652..24001678hg38UCSC Ensembl
chr14:24435861..24470887hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3835027
hg1935027
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2066n223
Supporting Variantsnssv18194068
Samples
Known GenesDHRS4, DHRS4L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486187
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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