A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv473518



Internal ID15226266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12664325..12664325hg38UCSC Ensembl
chr16:12758182..12758182hg19UCSC Ensembl
chr16:12665683..12665683hg18UCSC Ensembl
chr16:12665683..12665683hg17UCSC Ensembl
Cytoband16p13.12
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 Variantsnssv3018368
SamplesNA19129
Known GenesCPPED1
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)nsv473518
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer