nsv6290061
- 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:91,154
- 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: 805 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 792 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290061 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 38,898,327 | 38,989,480 |
| nsv6290061 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315972.2 | Chr22|NW_0 03315972.2 | 14,034 | 78,380 |
| nsv6290061 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 39,294,332 | 39,385,485 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17955798 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955798 | Remapped | Pass | NW_003315972.2:g.( ?_14034)_(78380_?) dup | GRCh38.p12 | Second Pass | NW_003315972.2 | Chr22|NW_0 03315972.2 | 14,034 | 78,380 |
| nssv17955798 | Remapped | Perfect | NC_000022.11:g.(?_ 38898327)_(3898948 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 38,898,327 | 38,989,480 |
| nssv17955798 | Submitted genomic | NC_000022.10:g.(?_ 39294332)_(3938548 5_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 39,294,332 | 39,385,485 |