nsv5380707
- Organism: Homo sapiens
- Study:nstd208 (Si et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,771,982
- Publication(s):Si et al. 2022
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: 10558 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 9842 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380707 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,111,111 |
| nsv5380707 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,912,300 | 21,465,400 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16865864 | deletion | psh02-LAR | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16865864 | Remapped | Pass | NC_000022.11:g.(?_ 18339130)_(2111111 1_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,111,111 |
| nssv16865864 | Submitted genomic | NC_000022.10:g.(?_ 18912300)_(2146540 0_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,912,300 | 21,465,400 |