A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8033



Internal ID15845945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:4762656..5046966hg38UCSC Ensembl
Outerchr7:4802287..5086597hg19UCSC Ensembl
Outerchr7:4768813..5053123hg18UCSC Ensembl
Outerchr7:4575528..4859838hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38284311
hg19284311
hg18284311
hg17284311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15991
SamplesNA19240
Known GenesAP5Z1, FOXK1, MIR4656, MMD2, PAPOLB, RADIL, RBAK, RBAK-RBAKDN, RNF216P1
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)nsv8033
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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