A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2299



Internal ID5084291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110152918..110204963hg19UCSC Ensembl
Outerchr1:109954441..110006486hg18UCSC Ensembl
Outerchr1:109864960..109917005hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv4469, nssv7442, nssv5763, nssv10184, nssv2298
SamplesNA18956, NA19129, NA12156, NA12878, NA18555
Known GenesAMPD2, GNAT2, GSTM4
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)nsv2299
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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