nsv6290104
- 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:28,931
- 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: 225 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 225 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290104 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 12,543,485 | 12,572,415 |
| nsv6290104 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 12,583,111 | 12,612,040 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17955743 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955743 | Remapped | Good | NC_000007.14:g.(?_ 12543485)_(1257241 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 12,543,485 | 12,572,415 |
| nssv17955743 | Submitted genomic | NC_000007.13:g.(?_ 12583111)_(1261204 0_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 12,583,111 | 12,612,040 |