nsv7145448
- 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:90
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: 842 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 1061 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7145448 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,939,325 | 22,939,414 |
| nsv7145448 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 36,354 | 36,443 |
| nsv7145448 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000015.9 | Chr15 | 22,933,654 | 22,933,743 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18838890 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18838890 | Remapped | Perfect | NT_187603.1:g.3635 4_36443del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 36,354 | 36,443 |
| nssv18838890 | Remapped | Perfect | NC_000015.10:g.229 39325_22939414del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,939,325 | 22,939,414 |
| nssv18838890 | Submitted genomic | NC_000015.9:g.2293 3654_22933743del | GRCh37.p13 | NC_000015.9 | Chr15 | 22,933,654 | 22,933,743 |
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) |
|---|---|---|---|
| nssv18838890 | 0.5 | 1 | 2 |