nsv4878267
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:72,519,398
- 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: 189732 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 189642 SVs from 154 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4878267 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 45,103,678 (-1) | 117,623,075 (+1) |
| nsv4878267 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 45,105,695 (-1) | 118,544,230 (+1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16411839 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16411839 | Remapped | Good | NC_000004.12:g.(45 103677_?)_(?_11762 3076)inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 45,103,678 (-1) | 117,623,075 (+1) |
| nssv16411839 | Submitted genomic | NC_000004.11:g.(45 105694_?)_(?_11854 4231)inv | GRCh37 (hg19) | NC_000004.11 | Chr4 | 45,105,695 (-1) | 118,544,230 (+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) |
|---|---|---|---|
| nssv16411839 | <0.001 | 1 | 16834 |