nsv5030381
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:280,650
- Publication(s):Abel et al. 2020
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: 938 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 938 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5030381 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 45,031,590 (+1) | 45,312,239 (+1) | ||
| nsv5030381 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 45,323,788 (+1) | 45,604,437 (+1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16556818 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16556818 | Submitted genomic | NC_000015.10:g.(?_ 45031591)_(?_45312 240)inv | GRCh38 (hg38) | NC_000015.10 | Chr15 | 45,031,590 (+1) | 45,312,239 (+1) | ||
| nssv16556818 | Remapped | Perfect | NC_000015.9:g.(?_4 5323789)_(?_456044 38)inv | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 45,323,788 (+1) | 45,604,437 (+1) |
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) |
|---|---|---|---|
| nssv16556818 | <0.001 | 1 | 29246 |