A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv374



Internal ID15201693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68876342..68897267hg38UCSC Ensembl
Outerchr11:68643810..68664735hg19UCSC Ensembl
Outerchr11:68400386..68421311hg18UCSC Ensembl
Outerchr11:68400386..68421311hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg385215
hg195215
hg185215
hg175215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10827, nssv3962
SamplesNA12878, NA18956
Known GenesMRPL21
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)nsv374
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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