A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14537



Internal ID15835815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:143636759..143638094hg38UCSC Ensembl
Outerchr6:143635108..143638887hg38UCSC Ensembl
Innerchr6:143957896..143959231hg19UCSC Ensembl
Outerchr6:143956245..143960024hg19UCSC Ensembl
Innerchr6:143999589..144000924hg18UCSC Ensembl
Outerchr6:143997938..144001717hg18UCSC Ensembl
Innerchr6:143999589..144000924hg17UCSC Ensembl
Outerchr6:143997938..144001717hg17UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg383780
hg193780
hg183780
hg173780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7973
Supporting Variants
SamplesNA18563
Known GenesPHACTR2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv14537
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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