A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv364



Internal ID15548269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:66835722..66847867hg38UCSC Ensembl
Outerchr11:66603193..66615338hg19UCSC Ensembl
Outerchr11:66359769..66371914hg18UCSC Ensembl
Outerchr11:66359769..66371914hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3811191
hg1911191
hg1811191
hg1711191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961
SamplesNA12878
Known GenesC11orf80, RCE1
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)nsv364
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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