nsv4831379
- 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:598
- 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: 112 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4831379 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 74,078,696 (-1, +1) | 74,079,293 |
| nsv4831379 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 74,545,399 (-1, +1) | 74,545,996 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16363040 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16363040 | Remapped | Perfect | NC_000014.9:g.(740 78695_74078697)_74 079293del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 74,078,696 (-1, +1) | 74,079,293 |
| nssv16363040 | Submitted genomic | NC_000014.8:g.(745 45398_74545400)_74 545996del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,545,399 (-1, +1) | 74,545,996 |
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) |
|---|---|---|---|
| nssv16363040 | 0.017 | 290 | 16834 |