A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv784



Internal ID15552805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78600371..78620921hg38UCSC Ensembl
Outerchr12:78994151..79014701hg19UCSC Ensembl
Outerchr12:77518282..77538832hg18UCSC Ensembl
Outerchr12:77496619..77517169hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg386290
hg196290
hg186290
hg176290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1098
SamplesNA19240
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)nsv784
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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