A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv376



Internal ID15548401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69229960..69265064hg38UCSC Ensembl
Outerchr11:68997427..69032531hg19UCSC Ensembl
Outerchr11:68754003..68789107hg18UCSC Ensembl
Outerchr11:68754003..68789107hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg385894
hg195894
hg185894
hg175894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1016
SamplesNA19240
Known Genes
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)nsv376
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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