A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16692



Internal ID15486387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:69635..78197hg38UCSC Ensembl
Outerchr7:68591..78797hg38UCSC Ensembl
Innerchr7:69635..78197hg19UCSC Ensembl
Outerchr7:68591..78797hg19UCSC Ensembl
Innerchr7:164718..173280hg18UCSC Ensembl
Outerchr7:163674..173880hg18UCSC Ensembl
Innerchr7:164718..173280hg17UCSC Ensembl
Outerchr7:163674..173880hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3810207
hg1910207
hg1810207
hg1710207
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8023
Supporting Variants
SamplesNA18502
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)nssv16692
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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