Internal ID | 16961075 |
Landmark | |
Location Information | |
Cytoband | 19p13.12 |
Allele length | Assembly | Allele length | hg38 | 712 | hg19 | 712 |
|
Variant Type | CNV deletion |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | 1 |
Merged Status | S |
Merged Variants | nsv930502 |
Supporting Variants | |
Samples | |
Known Genes | EMR3 |
Method | Sequencing |
Analysis | |
Platform | Not reported |
Comments | A processed transcript of the ITGB1 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample, by convention it must be referred to here as a deletion. |
Reference | Schrider_et_al_2013 |
Pubmed ID | 23359205 |
Accession Number(s) | nssv1607668
|
Frequency | Sample Size | 946 | Observed Gain | 0 | Observed Loss | 1 | Observed Complex | 0 | Frequency | n/a |
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