nsv6290077
- Organism: Homo sapiens
- Study:nstd218 (Wijesiriwardhana et al. 2021)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:73,951
- Publication(s):Wijesiriwardhana et al. 2021
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: 221 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 221 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290077 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 68,748,940 | 68,822,890 |
| nsv6290077 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 68,976,072 | 69,050,022 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17955708 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955708 | Remapped | Perfect | NC_000002.12:g.(?_ 68748940)_(6882289 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 68,748,940 | 68,822,890 |
| nssv17955708 | Submitted genomic | NC_000002.11:g.(?_ 68976072)_(6905002 2_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 68,976,072 | 69,050,022 |