A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15091



Internal ID15497821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29680730..29681367hg38UCSC Ensembl
Outerchr6:29680274..29685406hg38UCSC Ensembl
Innerchr6:29648507..29649144hg19UCSC Ensembl
Outerchr6:29648051..29653183hg19UCSC Ensembl
Innerchr6:29756486..29757123hg18UCSC Ensembl
Outerchr6:29756030..29761162hg18UCSC Ensembl
Innerchr6:29756486..29757123hg17UCSC Ensembl
Outerchr6:29756030..29761162hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg385133
hg195133
hg185133
hg175133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10808
Supporting Variants
SamplesNA19240
Known Genes
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)nssv15091
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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