A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3013757



Internal ID15562616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12121253..12121253hg38UCSC Ensembl
chr1:12181310..12181310hg19UCSC Ensembl
chr1:12103897..12103897hg18UCSC Ensembl
chr1:12115576..12115576hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv476183
Supporting Variants
SamplesNA12878
Known GenesTNFRSF8
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nssv3013757
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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