A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv473465



Internal ID15226213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26204208..26204208hg38UCSC Ensembl
chr12:26357141..26357141hg19UCSC Ensembl
chr12:26248408..26248408hg18UCSC Ensembl
chr12:26248408..26248408hg17UCSC Ensembl
Cytoband12p12.1
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 Variantsnssv3020026
SamplesNA19129
Known GenesSSPN
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)nsv473465
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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