A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1211



Internal ID15544519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75998192..76010992hg38UCSC Ensembl
Outerchr14:76464535..76477335hg19UCSC Ensembl
Outerchr14:75534288..75547088hg18UCSC Ensembl
Outerchr14:75534288..75547088hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3812801
hg1912801
hg1812801
hg1712801
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7256
Supporting Variants
SamplesNA19240
Known GenesBCYRN1, IFT43
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)nssv1211
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer