nsv3418430
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,304
- Description:Absence of a HERV insertion that is present in the reference
- Publication(s):Audano et al. 2019
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: 162 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418430 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 50,065,176 | 50,066,479 | ||
| nsv3418430 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 50,104,772 | 50,106,075 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14733563 | herv deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14738750 | herv deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14741031 | herv deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14733563 | Submitted genomic | NC_000007.14:g.500 65176_50066479del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 50,065,176 | 50,066,479 | ||
| nssv14738750 | Submitted genomic | NC_000007.14:g.500 65176_50066479del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 50,065,176 | 50,066,479 | ||
| nssv14741031 | Submitted genomic | NC_000007.14:g.500 65176_50066479del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 50,065,176 | 50,066,479 | ||
| nssv14733563 | Remapped | Perfect | NC_000007.13:g.501 04772_50106075delN C_000007.13:g.5010 4772_50106075del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 50,104,772 | 50,106,075 |
| nssv14738750 | Remapped | Perfect | NC_000007.13:g.501 04772_50106075delN C_000007.13:g.5010 4772_50106075del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 50,104,772 | 50,106,075 |
| nssv14741031 | Remapped | Perfect | NC_000007.13:g.501 04772_50106075delN C_000007.13:g.5010 4772_50106075del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 50,104,772 | 50,106,075 |