nsv5037291
- 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:10,838,531
- 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: 27528 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 27509 SVs from 130 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5037291 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 74,160,096 (+1) | 84,998,626 | ||
| nsv5037291 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 75,025,813 (+1) | 85,919,779 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16475916 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16475916 | Submitted genomic | NC_000004.12:g.(?_ 74160097)_84998626 inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 74,160,096 (+1) | 84,998,626 | ||
| nssv16475916 | Remapped | Good | NC_000004.11:g.(?_ 75025814)_85919779 inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 75,025,813 (+1) | 85,919,779 |
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) |
|---|---|---|---|
| nssv16475916 | <0.001 | 1 | 29246 |