A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9284



Internal ID15540235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:80424557..80454445hg38UCSC Ensembl
Outerchr12:80818337..80853303hg19UCSC Ensembl
Outerchr12:79342468..79377434hg18UCSC Ensembl
Outerchr12:79320805..79355771hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3829889
hg1934967
hg1834967
hg1734967
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7231
Supporting Variants
SamplesNA18517
Known GenesPTPRQ
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)nssv9284
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