A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23373



Internal ID15483334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207525381..207577795hg38UCSC Ensembl
Outerchr1:207524128..207578359hg38UCSC Ensembl
Innerchr1:207698726..207751140hg19UCSC Ensembl
Outerchr1:207697473..207751704hg19UCSC Ensembl
Innerchr1:205765349..205817763hg18UCSC Ensembl
Outerchr1:205764096..205818327hg18UCSC Ensembl
Innerchr1:204087121..204139535hg17UCSC Ensembl
Outerchr1:204085868..204140099hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3854232
hg1954232
hg1854232
hg1754232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8724
Supporting Variants
SamplesNA11830
Known GenesCR1
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)nssv23373
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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