A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622403



Internal ID15817628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23958567..24020039hg38UCSC Ensembl
Outerchr14:24427776..24489248hg19UCSC Ensembl
Outerchr14:23497616..23559088hg18UCSC Ensembl
Outerchr14:23497616..23559088hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3861473
hg1961473
hg1861473
hg1761473
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511030
Supporting Variants
SamplesNA10860
Known GenesDHRS4, DHRS4L1, DHRS4L2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv622403
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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