nsv5035636
- 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:18,379,399
- 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: 44958 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 43286 SVs from 144 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5035636 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 32,580,256 | 50,959,654 | ||
| nsv5035636 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 32,869,184 | 52,719,414 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16536001 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16536001 | Submitted genomic | NC_000010.11:g.325 80256_50959654inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 32,580,256 | 50,959,654 | ||
| nssv16536001 | Remapped | Pass | NC_000010.10:g.328 69184_52719414inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 32,869,184 | 52,719,414 |
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) |
|---|---|---|---|
| nssv16536001 | <0.001 | 1 | 29246 |