A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693411



Internal ID117077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23963625..23973713hg38UCSC Ensembl
chr14:24432834..24442922hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3810089
hg1910089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143988
Supporting Variants
Samples
Known GenesDHRS4, DHRS4L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693411
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000472


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