A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv870



Internal ID15552891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:105412719..105448105hg38UCSC Ensembl
Outerchr12:105806497..105841883hg19UCSC Ensembl
Outerchr12:104330627..104366013hg18UCSC Ensembl
Outerchr12:104308964..104344350hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg385610
hg195610
hg185610
hg175610
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1113
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)nsv870
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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