A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14745



Internal ID15488429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25257564..25309006hg38UCSC Ensembl
Outerchr1:25256824..25309929hg38UCSC Ensembl
Innerchr1:25584055..25635497hg19UCSC Ensembl
Outerchr1:25583315..25636420hg19UCSC Ensembl
Innerchr1:25456642..25508084hg18UCSC Ensembl
Outerchr1:25455902..25509007hg18UCSC Ensembl
Innerchr1:25329374..25380813hg17UCSC Ensembl
Outerchr1:25328634..25381736hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3853106
hg1953106
hg1853106
hg1753103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9768
Supporting Variants
SamplesNA18537
Known GenesRHD
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)nssv14745
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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