nsv1159740
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Alsmadi et al. 2014
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: 344 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 343 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 332 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1159740 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 44,503,020 | 44,503,020 | not reported |
| nsv1159740 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 44,503,342 | 44,503,342 | not reported |
| nsv1159740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 45,922,903 | 45,922,903 | not reported | ||
| nsv1159740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 45,923,225 | 45,923,225 | not reported |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv4024874 | intrachromosomal translocation | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv4024874 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 44,503,020 | 44,503,020 | not reported |
| nssv4024874 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 44,503,342 | 44,503,342 | not reported |
| nssv4024874 | Submitted genomic | GRCh37 (hg19) | NC_000021.8 | Chr21 | 45,922,903 | 45,922,903 | not reported | ||
| nssv4024874 | Submitted genomic | GRCh37 (hg19) | NC_000021.8 | Chr21 | 45,923,225 | 45,923,225 | not reported |