A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14566



Internal ID15488651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29883718..29926045hg38UCSC Ensembl
Outerchr6:29881914..29926352hg38UCSC Ensembl
Innerchr6:29851495..29893822hg19UCSC Ensembl
Outerchr6:29849691..29894129hg19UCSC Ensembl
Innerchr6:29959474..30001801hg18UCSC Ensembl
Outerchr6:29957670..30002108hg18UCSC Ensembl
Innerchr6:29959474..30001801hg17UCSC Ensembl
Outerchr6:29957670..30002108hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3844439
hg1944439
hg1844439
hg1744439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA18552
Known GenesHCG4B, HLA-H
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)nssv14566
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