nsv5040732
- 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:26,908,706
- 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: 67202 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 67203 SVs from 140 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5040732 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 100,673,006 (+1) | 127,581,711 | ||
| nsv5040732 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 103,435,288 (+1) | 130,343,990 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16517016 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16517016 | Submitted genomic | NC_000009.12:g.(?_ 100673007)_1275817 11inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 100,673,006 (+1) | 127,581,711 | ||
| nssv16517016 | Remapped | Perfect | NC_000009.11:g.(?_ 103435289)_1303439 90inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 103,435,288 (+1) | 130,343,990 |
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) |
|---|---|---|---|
| nssv16517016 | <0.001 | 1 | 29246 |