Internal ID | 15228927 |
Landmark | |
Location Information | |
Cytoband | 3p22.2 |
Allele length | Assembly | Allele length | hg38 | 1 | hg19 | 1 | hg18 | 1 | hg17 | 1 |
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Variant Type | CNV novel sequence insertion |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | nssv3018418 |
Samples | NA12878 |
Known Genes | ACAA1 |
Method | Sequencing |
Analysis | Search fosmid ESPs as described in Tuzun et al (2005) |
Platform | Agilent Custom Human 244K CGH Array |
Comments | OEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion |
Reference | Kidd_et_al_2010 |
Pubmed ID | 20440878 |
Accession Number(s) | nsv476175
|
Frequency | Sample Size | 9 | Observed Gain | 1 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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