A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9175



Internal ID15188003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23952167..23983409hg38UCSC Ensembl
Outerchr14:24421376..24452618hg19UCSC Ensembl
Outerchr14:23491216..23522458hg18UCSC Ensembl
Outerchr14:23491216..23522458hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg387110
hg197110
hg187110
hg177110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1218
Supporting Variants
SamplesNA12156
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)nssv9175
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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