A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv477771



Internal ID15230511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63519872..63519872hg38UCSC Ensembl
chr2:63747006..63747006hg19UCSC Ensembl
chr2:63600510..63600510hg18UCSC Ensembl
chr2:63658657..63658657hg17UCSC Ensembl
Cytoband2p15
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 Variantsnssv3016217
SamplesNA18517
Known GenesWDPCP
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)nsv477771
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