A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv867



Internal ID15552888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103677918..103712990hg38UCSC Ensembl
Outerchr12:104071696..104106768hg19UCSC Ensembl
Outerchr12:102595826..102630898hg18UCSC Ensembl
Outerchr12:102574163..102609235hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg385913
hg195913
hg185913
hg175913
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1112
SamplesNA19240
Known GenesSTAB2
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)nsv867
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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