A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3432



Internal ID5090458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167388103..167421877hg19UCSC Ensembl
Outerchr1:165654727..165688501hg18UCSC Ensembl
Outerchr1:164119761..164153535hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg195665
hg185665
hg175665
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv7770
SamplesNA12156
Known GenesCD247, POU2F1
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)nsv3432
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