nsv1159709
- 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: 304 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 1105 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 304 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 1105 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1159709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 17,400,257 | 17,400,257 | - |
| nsv1159709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,585,862 | 22,585,862 | - |
| nsv1159709 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 221,519 | 221,519 | - |
| nsv1159709 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 18,772,576 | 18,772,576 | - | ||
| nsv1159709 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,928,326 | 22,928,326 | - |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv4024828 | interchromosomal translocation | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv4024828 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 17,400,257 | 17,400,257 | - |
| nssv4024828 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 221,519 | 221,519 | - |
| nssv4024828 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,585,862 | 22,585,862 | - |
| nssv4024828 | Submitted genomic | GRCh37 (hg19) | NC_000021.8 | Chr21 | 18,772,576 | 18,772,576 | - | ||
| nssv4024828 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,928,326 | 22,928,326 | - |