A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv942



Internal ID15206277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131906169..131935050hg38UCSC Ensembl
Outerchr12:132390714..132419595hg19UCSC Ensembl
Outerchr12:130956667..130985548hg18UCSC Ensembl
Outerchr12:131056944..131085825hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3810848
hg1910848
hg1810848
hg1710848
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1133
SamplesNA19240
Known GenesPUS1, ULK1
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)nsv942
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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