A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv779



Internal ID15552800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:76893879..76923332hg38UCSC Ensembl
Outerchr12:77287659..77317112hg19UCSC Ensembl
Outerchr12:75811790..75841243hg18UCSC Ensembl
Outerchr12:75790127..75819580hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3810046
hg1910046
hg1810046
hg1710046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10873
SamplesNA18956
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)nsv779
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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