A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258366



Internal ID22192334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23947542..24043569hg38UCSC Ensembl
Outerchr14:24416751..24512778hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3896028
hg1996028
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229823
Supporting Variants
SamplesHG00731
Known GenesDHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258366
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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