A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7419



Internal ID5088844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:126706707..129733853hg19UCSC Ensembl
Outerchr8:126775889..129803035hg18UCSC Ensembl
Outerchr8:126775889..129803035hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv770
SamplesNA19240
Known GenesFAM84B, LOC100130231, LOC727677, MIR1204, MIR1205, MIR1206, MIR1207, MIR1208, MYC, POU5F1B, PVT1
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)nsv7419
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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