A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13727



Internal ID15489495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29732383..29814243hg38UCSC Ensembl
Outerchr6:29724796..29814908hg38UCSC Ensembl
Innerchr6:29700160..29782020hg19UCSC Ensembl
Outerchr6:29692573..29782685hg19UCSC Ensembl
Innerchr6:29808139..29889999hg18UCSC Ensembl
Outerchr6:29800552..29890664hg18UCSC Ensembl
Innerchr6:29808139..29889999hg17UCSC Ensembl
Outerchr6:29800552..29890664hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3890113
hg1990113
hg1890113
hg1790113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10809
Supporting Variants
SamplesNA18563
Known GenesHCG4, HLA-F, HLA-F-AS1, IFITM4P, LOC554223
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)nssv13727
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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