A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5370



Internal ID15543076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:85899086..85932779hg38UCSC Ensembl
Outerchr11:85610129..85643822hg19UCSC Ensembl
Outerchr11:85287777..85321470hg18UCSC Ensembl
Outerchr11:85287777..85321470hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg385590
hg195590
hg185590
hg175590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv418
Supporting Variants
SamplesNA19129
Known GenesCCDC83
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)nssv5370
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