A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5493



Internal ID15197289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23999853..24043480hg38UCSC Ensembl
Outerchr14:24469062..24512689hg19UCSC Ensembl
Outerchr14:23538902..23582529hg18UCSC Ensembl
Outerchr14:23538902..23582529hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3843628
hg1943628
hg1843628
hg1743628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1217
Supporting Variants
SamplesNA19129
Known GenesDHRS4L1, DHRS4L2
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5493
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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