nsv3168446
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,048,474
- Publication(s):Cleal et al. 2019
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: 36073 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 36092 SVs from 139 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168446 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 34,955,015 (-11, +11) | 45,003,488 (-11, +11) |
| nsv3168446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 35,445,919 (-11, +11) | 45,506,746 (-11, +11) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239441 | deletion | DB114 | Sequencing | Paired-end mapping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239441 | Remapped | Good | NC_000019.10:g.(34 955004_34955026)_( 45003477_45003499) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 34,955,015 (-11, +11) | 45,003,488 (-11, +11) |
| nssv14239441 | Submitted genomic | NC_000019.9:g.(354 45908_35445930)_(4 5506735_45506757)d el | GRCh37 (hg19) | NC_000019.9 | Chr19 | 35,445,919 (-11, +11) | 45,506,746 (-11, +11) |