A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1218



Internal ID15199095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23941636..23983409hg38UCSC Ensembl
Outerchr14:24410845..24452618hg19UCSC Ensembl
Outerchr14:23480685..23522458hg18UCSC Ensembl
Outerchr14:23480685..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 StatusM
Merged Variants
Supporting Variantsnssv9175, nssv4101, nssv1181
SamplesNA12156, NA12878, NA19240
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)nsv1218
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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