A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1759



Internal ID5086366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20350586..20384768hg19UCSC Ensembl
Outerchr16:20258087..20292269hg18UCSC Ensembl
Outerchr16:20258087..20292269hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg196795
hg186795
hg176795
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1299
SamplesNA19240
Known GenesPDILT, UMOD
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)nsv1759
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