nsv1148892
- 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:24,330
- 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: 180 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1148892 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 48,974,954 | 48,999,283 |
| nsv1148892 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 48,976,971 | 49,001,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3997677 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3997677 | Remapped | Perfect | NC_000004.12:g.(48 974954_?)_(?_48999 283)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 48,974,954 | 48,999,283 |
| nssv3997677 | Submitted genomic | NC_000004.11:g.(48 976971_?)_(?_49001 300)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 48,976,971 | 49,001,300 |