A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv349



Internal ID15548104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63412648..63425951hg38UCSC Ensembl
Outerchr11:63180120..63193423hg19UCSC Ensembl
Outerchr11:62936696..62949999hg18UCSC Ensembl
Outerchr11:62936696..62949999hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3817522
hg1917522
hg1817522
hg1717522
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10896
SamplesNA15510
Known GenesMIR3680-1, MIR3680-2
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)nsv349
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