A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1183



Internal ID15197864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23998637..24040681hg38UCSC Ensembl
Outerchr14:24467846..24509890hg19UCSC Ensembl
Outerchr14:23537686..23579730hg18UCSC Ensembl
Outerchr14:23537686..23579730hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3842045
hg1942045
hg1842045
hg1742045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1217
Supporting Variants
SamplesNA19240
Known GenesDHRS4L1, 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)nssv1183
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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