nsv5037434
- 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:51,871,104
- 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: 125534 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 125425 SVs from 146 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5037434 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 5,031,119 | 56,902,222 (+1) | ||
| nsv5037434 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 5,072,804 | 56,936,250 (+1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16457020 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16457020 | Submitted genomic | NC_000003.12:g.503 1119_(?_56902223)i nv | GRCh38 (hg38) | NC_000003.12 | Chr3 | 5,031,119 | 56,902,222 (+1) | ||
| nssv16457020 | Remapped | Good | NC_000003.11:g.507 2804_(?_56936251)i nv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 5,072,804 | 56,936,250 (+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) |
|---|---|---|---|
| nssv16457020 | <0.001 | 1 | 29246 |