A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv476743



Internal ID15229495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123036331..123036331hg38UCSC Ensembl
chr12:123520878..123520878hg19UCSC Ensembl
chr12:122086831..122086831hg18UCSC Ensembl
chr12:122045758..122045758hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3011521
SamplesNA12878
Known GenesPITPNM2
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)nsv476743
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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