nsv5630430
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Ebert et al. 2021
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: 342 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 342 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5630430 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 170,399,483 | 170,399,483 | ||
| nsv5630430 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 170,708,571 | 170,708,571 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17150817 | insertion | SAMN00001695 | Sequencing | Sequence alignment | 6,153 |
| nssv17151515 | insertion | SAMN00006580 | Sequencing | Sequence alignment | 9,409 |
| nssv17158108 | insertion | HG01114 | Sequencing | Sequence alignment | 977 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17150817 | Submitted genomic | NC_000006.12:g.170 399483_170399484in s1954 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 170,399,483 | 170,399,483 | ||
| nssv17151515 | Submitted genomic | NC_000006.12:g.170 399483_170399484in s5361 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 170,399,483 | 170,399,483 | ||
| nssv17158108 | Submitted genomic | NC_000006.12:g.170 399483_170399484in s79 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 170,399,483 | 170,399,483 | ||
| nssv17150817 | Remapped | Perfect | NC_000006.11:g.170 708571_170708572in s1954 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 170,708,571 | 170,708,571 |
| nssv17151515 | Remapped | Perfect | NC_000006.11:g.170 708571_170708572in s5361 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 170,708,571 | 170,708,571 |
| nssv17158108 | Remapped | Perfect | NC_000006.11:g.170 708571_170708572in s79 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 170,708,571 | 170,708,571 |