A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4766



Internal ID5087436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:227025954..227070961hg19UCSC Ensembl
Outerchr1:225092577..225137584hg18UCSC Ensembl
Outerchr1:223332689..223377696hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg195600
hg185600
hg175600
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv8162
SamplesNA12156
Known GenesPSEN2
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)nsv4766
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer