A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8030



Internal ID15845942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1635205..1638658hg38UCSC Ensembl
Outerchr7:1674841..1678294hg19UCSC Ensembl
Outerchr7:1641367..1644820hg18UCSC Ensembl
Outerchr7:1448082..1451535hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg383454
hg193454
hg183454
hg173454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14825
SamplesNA10847
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)nsv8030
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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