nsv870039
- Organism: Homo sapiens
- Study:nstd53 (Tuttelmann et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:196,236
- Publication(s):Tüttelmann et al. 2011
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 522 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 523 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv870039 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,647,429 | 11,650,769 | 11,840,266 | 11,843,664 |
| nsv870039 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 11,800,363 | 11,803,703 | 11,993,200 | 11,996,598 |
| nsv870039 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 11,691,630 | 11,694,970 | 11,884,467 | 11,887,865 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1496587 | copy number gain | SCOS_06 | Oligo aCGH | Probe signal intensity | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1496587 | Remapped | Perfect | NC_000012.12:g.(11 647429_11650769)_( 11840266_11843664) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,647,429 | 11,650,769 | 11,840,266 | 11,843,664 |
| nssv1496587 | Remapped | Perfect | NC_000012.11:g.(11 800363_11803703)_( 11993200_11996598) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,800,363 | 11,803,703 | 11,993,200 | 11,996,598 |
| nssv1496587 | Submitted genomic | NC_000012.10:g.(11 691630_11694970)_( 11884467_11887865) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,691,630 | 11,694,970 | 11,884,467 | 11,887,865 |