A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1181



Internal ID15197866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23941636..23962959hg38UCSC Ensembl
Outerchr14:24410845..24432168hg19UCSC Ensembl
Outerchr14:23480685..23502008hg18UCSC Ensembl
Outerchr14:23480685..23502008hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg386288
hg196288
hg186288
hg176288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1218
Supporting Variants
SamplesNA19240
Known GenesDHRS4, DHRS4-AS1
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)nssv1181
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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