nsv1146989
- 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:74,599
- 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: 216 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 779 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1146989 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000001.11 | Chr1 | - | 120,179,980 | 120,254,578 |
| nsv1146989 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 145,017,999 | - | 145,093,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3998349 | duplication | 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 | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv3998349 | Remapped | Good | NC_000001.11:g.(?_ 120179980)_(?_1202 54578)dup | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | - | 120,179,980 | 120,254,578 |
| nssv3998349 | Submitted genomic | NC_000001.10:g.(14 5017999_?)_(?_1450 93000)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,017,999 | - | 145,093,000 |