A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5490



Internal ID15197292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23932577..24000680hg38UCSC Ensembl
Outerchr14:24401786..24469889hg19UCSC Ensembl
Outerchr14:23471626..23539729hg18UCSC Ensembl
Outerchr14:23471626..23539729hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3868104
hg1968104
hg1868104
hg1768104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1217
Supporting Variants
SamplesNA19129
Known GenesDHRS4, DHRS4-AS1, 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)nssv5490
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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