A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv918



Internal ID15552939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125353186..125388480hg38UCSC Ensembl
Outerchr12:125837732..125873026hg19UCSC Ensembl
Outerchr12:124403685..124438979hg18UCSC Ensembl
Outerchr12:124362612..124397906hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385700
hg195700
hg185700
hg175700
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124
SamplesNA19240
Known GenesTMEM132B
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)nsv918
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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