nsv5039398
- 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:5,421,415
- 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: 16156 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 16156 SVs from 129 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5039398 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 63,499,867 | 68,921,281 (+1) | ||
| nsv5039398 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 64,074,000 | 69,495,413 (+1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16557146 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16557146 | Submitted genomic | NC_000013.11:g.634 99867_(?_68921282) inv | GRCh38 (hg38) | NC_000013.11 | Chr13 | 63,499,867 | 68,921,281 (+1) | ||
| nssv16557146 | Remapped | Perfect | NC_000013.10:g.640 74000_(?_69495414) inv | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,074,000 | 69,495,413 (+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) |
|---|---|---|---|
| nssv16557146 | <0.001 | 1 | 29246 |