A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5665



Internal ID5084304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6155034..6188211hg19UCSC Ensembl
Outerchr10:6195040..6228217hg18UCSC Ensembl
Outerchr10:6195040..6228217hg17UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg196569
hg186569
hg176569
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv3862
SamplesNA12878
Known GenesPFKFB3, RBM17
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv5665
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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