nsv3067071
- Organism: Homo sapiens
- Study:nstd141 (Rambo-Martin et al. 2018)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,190
- Publication(s):Rambo-Martin et al. 2018
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: 270 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3067071 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 30,221,281 | 30,230,470 |
| nsv3067071 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 31,593,599 | 31,602,788 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14038720 | copy number gain | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14038720 | Remapped | Perfect | NC_000021.9:g.(?_3 0221281)_(30230470 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 30,221,281 | 30,230,470 |
| nssv14038720 | Submitted genomic | NC_000021.8:g.(?_3 1593599)_(31602788 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 31,593,599 | 31,602,788 |