A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229823



Internal ID22371544
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258366, nssv14258365
SamplesHG00512, HG00731
Known GenesDHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229823
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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