A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv306



Internal ID15547631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45392493..45422881hg38UCSC Ensembl
Outerchr11:45414044..45444431hg19UCSC Ensembl
Outerchr11:45370620..45401007hg18UCSC Ensembl
Outerchr11:45370620..45401007hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3830389
hg1930388
hg1830388
hg1730388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8906
SamplesNA12156
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)nsv306
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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