nsv5029881
- 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:2,195,128
- 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: 4967 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3573 SVs from 85 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5029881 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 113,528,269 | 115,723,396 | ||
| nsv5029881 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 115,288,028 | 116,786,295 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16536734 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16536734 | Submitted genomic | NC_000010.11:g.113 528269_115723396in v | GRCh38 (hg38) | NC_000010.11 | Chr10 | 113,528,269 | 115,723,396 | ||
| nssv16536734 | Remapped | Pass | NC_000010.10:g.115 288028_116786295in v | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 115,288,028 | 116,786,295 |
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) |
|---|---|---|---|
| nssv16536734 | <0.001 | 1 | 29246 |