A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14625



Internal ID15488368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:82276706..82396114hg38UCSC Ensembl
Outerchr6:82130518..82535071hg38UCSC Ensembl
Innerchr6:82986423..83105831hg19UCSC Ensembl
Outerchr6:82840235..83244788hg19UCSC Ensembl
Innerchr6:83043142..83162550hg18UCSC Ensembl
Outerchr6:82896954..83301507hg18UCSC Ensembl
Innerchr6:83043142..83162550hg17UCSC Ensembl
Outerchr6:82896954..83301507hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38404554
hg19404554
hg18404554
hg17404554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7937
Supporting Variants
SamplesNA18537
Known GenesIBTK, TPBG
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)nssv14625
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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