A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4101



Internal ID15192142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23961961..23977809hg38UCSC Ensembl
Outerchr14:24431170..24447018hg19UCSC Ensembl
Outerchr14:23501010..23516858hg18UCSC Ensembl
Outerchr14:23501010..23516858hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg385066
hg195066
hg185066
hg175066
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1218
Supporting Variants
SamplesNA12878
Known GenesDHRS4, 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)nssv4101
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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