A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4103



Internal ID15192144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23974142..24020836hg38UCSC Ensembl
Outerchr14:24443351..24490045hg19UCSC Ensembl
Outerchr14:23513191..23559885hg18UCSC Ensembl
Outerchr14:23513191..23559885hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3846695
hg1946695
hg1846695
hg1746695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1217
Supporting Variants
SamplesNA12878
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)nssv4103
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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