nsv1069218
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Thareja et al. 2015
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: 695 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 644 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 4 studies. See in: genome view
Overlapping variant regions from other studies: 695 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 644 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1069218 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 188,506,692 | 188,506,692 | not reported |
| nsv1069218 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 188,508,510 | 188,508,510 | not reported |
| nsv1069218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187545.1 | Chr4|NT_18 7545.1 | 172,095 | 172,095 | not reported |
| nsv1069218 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 189,427,846 | 189,427,846 | not reported | ||
| nsv1069218 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 189,429,664 | 189,429,664 | not reported |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3766595 | intrachromosomal translocation | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv3766595 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187545.1 | Chr4|NT_18 7545.1 | 172,095 | 172,095 | not reported |
| nssv3766595 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,506,692 | 188,506,692 | not reported |
| nssv3766595 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,508,510 | 188,508,510 | not reported |
| nssv3766595 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 189,427,846 | 189,427,846 | not reported | ||
| nssv3766595 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 189,429,664 | 189,429,664 | not reported |