A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15853



Internal ID15486761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29883718..29935327hg38UCSC Ensembl
Outerchr6:29881914..29936765hg38UCSC Ensembl
Innerchr6:29851495..29903104hg19UCSC Ensembl
Outerchr6:29849691..29904542hg19UCSC Ensembl
Innerchr6:29959474..30011083hg18UCSC Ensembl
Outerchr6:29957670..30012521hg18UCSC Ensembl
Innerchr6:29959474..30011083hg17UCSC Ensembl
Outerchr6:29957670..30012521hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3854852
hg1954852
hg1854852
hg1754852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA18504
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)nssv15853
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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