A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12461



Internal ID15485604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70027757..70072574hg38UCSC Ensembl
Outerchr5:70026957..70073930hg38UCSC Ensembl
Innerchr5:69323584..69368401hg19UCSC Ensembl
Outerchr5:69322784..69369757hg19UCSC Ensembl
Innerchr5:69359340..69404157hg18UCSC Ensembl
Outerchr5:69358540..69405513hg18UCSC Ensembl
Innerchr5:69359340..69404157hg17UCSC Ensembl
Outerchr5:69358540..69405513hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3846974
hg1946974
hg1846974
hg1746974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12872
Known GenesSERF1A, SERF1B, SMA4, SMN1, SMN2
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)nssv12461
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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