A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13940



Internal ID15490792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29732383..29797865hg38UCSC Ensembl
Outerchr6:29724796..29810753hg38UCSC Ensembl
Innerchr6:29700160..29765642hg19UCSC Ensembl
Outerchr6:29692573..29778530hg19UCSC Ensembl
Innerchr6:29808139..29873621hg18UCSC Ensembl
Outerchr6:29800552..29886509hg18UCSC Ensembl
Innerchr6:29808139..29873621hg17UCSC Ensembl
Outerchr6:29800552..29886509hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3885958
hg1985958
hg1885958
hg1785958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10809
Supporting Variants
SamplesNA18853
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)nssv13940
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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