nsv7143133
- Organism: Homo sapiens
- Study:nstd232 (Keane et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:68
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: 372 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 372 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7143133 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,994,987 | 50,995,054 |
| nsv7143133 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000002.11 | Chr2 | 51,222,125 | 51,222,192 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18838347 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18838347 | Remapped | Perfect | NC_000002.12:g.509 94987_50995054del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,994,987 | 50,995,054 |
| nssv18838347 | Submitted genomic | NC_000002.11:g.512 22125_51222192del | GRCh37.p13 | NC_000002.11 | Chr2 | 51,222,125 | 51,222,192 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18838347 | 0.5 | 2 | 4 |