A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv890



Internal ID15206225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112975965..112991889hg38UCSC Ensembl
Outerchr12:113413770..113429694hg19UCSC Ensembl
Outerchr12:111898153..111914077hg18UCSC Ensembl
Outerchr12:111876490..111892414hg17UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg386045
hg196045
hg186045
hg176045
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9083
SamplesNA12156
Known GenesOAS2
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)nsv890
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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