A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv476870



Internal ID15229622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110082435..110082435hg38UCSC Ensembl
chr9:112844715..112844715hg19UCSC Ensembl
chr9:111884536..111884536hg18UCSC Ensembl
chr9:109924270..109924270hg17UCSC Ensembl
Cytoband9q31.3
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 Variantsnssv3016057
SamplesNA12878
Known GenesAKAP2, PALM2-AKAP2
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)nsv476870
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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