A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14627



Internal ID15835760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160611205..160646741hg38UCSC Ensembl
Outerchr6:160609724..160647162hg38UCSC Ensembl
Innerchr6:161032237..161067773hg19UCSC Ensembl
Outerchr6:161030756..161068194hg19UCSC Ensembl
Innerchr6:160952227..160987763hg18UCSC Ensembl
Outerchr6:160950746..160988184hg18UCSC Ensembl
Innerchr6:161002648..161038184hg17UCSC Ensembl
Outerchr6:161001167..161038605hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3837439
hg1937439
hg1837439
hg1737439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7986
Supporting Variants
SamplesNA18563
Known GenesLPA
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)nssv14627
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