nsv4813898
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,064
- 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: 252 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 235 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4813898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 143,796,624 | 143,797,687 |
| nsv4813898 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187571.1 | Chr8|NT_18 7571.1 | 273,671 | 274,734 |
| nsv4813898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 144,878,794 | 144,879,857 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16349491 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16349491 | Remapped | Perfect | NT_187571.1:g.2736 71_274734del | GRCh38.p12 | Second Pass | NT_187571.1 | Chr8|NT_18 7571.1 | 273,671 | 274,734 |
| nssv16349491 | Remapped | Perfect | NC_000008.11:g.143 796624_143797687de l | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 143,796,624 | 143,797,687 |
| nssv16349491 | Submitted genomic | NC_000008.10:g.144 878794_144879857de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 144,878,794 | 144,879,857 |
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) |
|---|---|---|---|
| nssv16349491 | <0.001 | 1 | 16834 |