nsv3971590
- Organism: Homo sapiens
- Study:nstd168 (Levy-Sakin et al. 2019)
- Variant Type:translocation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Levy-Sakin 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: 130 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 385 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 275 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3971590 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 120,197,798 | 120,197,798 | + | ||
| nsv3971590 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 146,281,540 | 146,281,540 | + | ||
| nsv3971590 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 145,156,580 | 145,156,580 | + |
| nsv3971590 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 269,372 | 269,372 | + |
| nsv3971590 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 3,096,953 | 3,096,953 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15222038 | intrachromosomal translocation | Optical mapping | Optical mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv15222038 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 120,197,798 | 120,197,798 | + | ||
| nssv15222038 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,281,540 | 146,281,540 | + | ||
| nssv15222038 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 269,372 | 269,372 | + |
| nssv15222038 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 3,096,953 | 3,096,953 | + |
| nssv15222038 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 145,156,580 | 145,156,580 | + |