A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv368



Internal ID5086039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67247313..67277337hg19UCSC Ensembl
Outerchr11:67003889..67033913hg18UCSC Ensembl
Outerchr11:67003889..67033913hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg199252
hg189252
hg179252
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv5364
SamplesNA19129
Known GenesAIP, CDK2AP2, PITPNM1
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)nsv368
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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