A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9192



Internal ID15534672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:44988463..45033468hg38UCSC Ensembl
Outerchr14:45457666..45502671hg19UCSC Ensembl
Outerchr14:44527416..44572421hg18UCSC Ensembl
Outerchr14:44527416..44572421hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3845006
hg1945006
hg1845006
hg1745006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1260
Supporting Variants
SamplesNA12156
Known GenesFAM179B
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)nssv9192
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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