A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2047



Internal ID15194644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2436575..2488353hg18UCSC Ensembl
Outerchr1:2478877..2530655hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg1851779
hg1751779
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7171
Supporting Variants
SamplesNA18555
Known GenesHES5, LOC100133445, LOC115110, PANK4, TNFRSF14
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv2047
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