nsv7144015
- 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:81
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: 141 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7144015 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 47,808,245 | 47,808,325 |
| nsv7144015 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000002.11 | Chr2 | 48,035,384 | 48,035,464 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18837093 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18837093 | Remapped | Perfect | NC_000002.12:g.478 08245_47808325del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 47,808,245 | 47,808,325 |
| nssv18837093 | Submitted genomic | NC_000002.11:g.480 35384_48035464del | GRCh37.p13 | NC_000002.11 | Chr2 | 48,035,384 | 48,035,464 |
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) |
|---|---|---|---|
| nssv18837093 | 0.5 | 1 | 2 |