nsv1075378
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,602
- 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: 161 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1075378 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NT_113796.3 | Chr14|NT_1 13796.3 | 119,083 | 179,684 |
| nsv1075378 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 143,461,899 | 143,522,500 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3763282 | duplication | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3763282 | Remapped | Perfect | NT_113796.3:g.1190 83_179684dup | GRCh38.p12 | First Pass | NT_113796.3 | Chr14|NT_1 13796.3 | 119,083 | 179,684 |
| nssv3763282 | Submitted genomic | NC_000001.10:g.143 461899_143522500du p | GRCh37 (hg19) | NC_000001.10 | Chr1 | 143,461,899 | 143,522,500 |