A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv421



Internal ID15548896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:87336059..87351047hg38UCSC Ensembl
Outerchr11:87047101..87062089hg19UCSC Ensembl
Outerchr11:86724749..86739737hg18UCSC Ensembl
Outerchr11:86724749..86739737hg17UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg384255
hg194255
hg184255
hg174255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973
SamplesNA12878
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)nsv421
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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