A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv313



Internal ID15547708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47094113..47128263hg38UCSC Ensembl
Outerchr11:47115664..47149814hg19UCSC Ensembl
Outerchr11:47072240..47106390hg18UCSC Ensembl
Outerchr11:47072240..47106390hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385288
hg195288
hg185288
hg175288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8910
SamplesNA12156
Known GenesC11orf49
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)nsv313
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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