A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv480



Internal ID8516527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:108112138..108151779hg38UCSC Ensembl
Outerchr11:107982865..108022506hg19UCSC Ensembl
Outerchr11:107488075..107527716hg18UCSC Ensembl
Outerchr11:107488075..107527716hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg385342
hg195342
hg185342
hg175342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988, nssv10838
SamplesNA18956, NA12878
Known GenesACAT1
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)nsv480
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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