A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6059



Internal ID15204244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6693878..6726740hg38UCSC Ensembl
Outerchr8:6551399..6584261hg19UCSC Ensembl
Outerchr8:6538807..6571669hg18UCSC Ensembl
Outerchr8:6538807..6571669hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386878
hg196878
hg186878
hg176878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3615
SamplesNA12878
Known GenesAGPAT5
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)nsv6059
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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