A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1298



Internal ID15544423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:18832695..18865527hg38UCSC Ensembl
Outerchr16:18844017..18876849hg19UCSC Ensembl
Outerchr16:18751518..18784350hg18UCSC Ensembl
Outerchr16:18751518..18784350hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg388162
hg198162
hg188162
hg178162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1753
Supporting Variants
SamplesNA19240
Known GenesSMG1
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)nssv1298
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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