nsv1148588
- Organism: Homo sapiens
- Study:nstd107 (John et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,491
- Publication(s):John 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: 160 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1148588 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 202,138,959 | 202,156,449 |
| nsv1148588 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 203,003,682 | 203,021,172 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv4000625 | deletion | KWB1 | Sequencing | Read depth and paired-end mapping | 8,440 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv4000625 | Remapped | Perfect | NC_000002.12:g.(20 2138959_?)_(?_2021 56449)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 202,138,959 | 202,156,449 |
| nssv4000625 | Submitted genomic | NC_000002.11:g.(20 3003682_?)_(?_2030 21172)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 203,003,682 | 203,021,172 |