A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv477550



Internal ID15230290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174188202..174188202hg38UCSC Ensembl
chr2:175052930..175052930hg19UCSC Ensembl
chr2:174761176..174761176hg18UCSC Ensembl
chr2:174878437..174878437hg17UCSC Ensembl
Cytoband2q31.1
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 Variantsnssv3016687
SamplesNA18517
Known GenesOLA1
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)nsv477550
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