A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14706



Internal ID15482896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29883718..29925262hg38UCSC Ensembl
Outerchr6:29881914..29925722hg38UCSC Ensembl
Innerchr6:29851495..29893039hg19UCSC Ensembl
Outerchr6:29849691..29893499hg19UCSC Ensembl
Innerchr6:29959474..30001018hg18UCSC Ensembl
Outerchr6:29957670..30001478hg18UCSC Ensembl
Innerchr6:29959474..30001018hg17UCSC Ensembl
Outerchr6:29957670..30001478hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3843809
hg1943809
hg1843809
hg1743809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA10863
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)nssv14706
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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