A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5489



Internal ID15543980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:18657802..19624027hg38UCSC Ensembl
Outerchr14:19434279..20092313hg19UCSC Ensembl
Outerchr14:18504279..19162026hg18UCSC Ensembl
Outerchr14:18504279..19162026hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38966226
hg19658035
hg18657748
hg17657748
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7248
Supporting Variants
SamplesNA19129
Known GenesBMS1P17, BMS1P18, POTEG, POTEM
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)nssv5489
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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