nsv3168280
- 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:167,738
- 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: 433 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168280 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 174,567,409 (-427, +427) | 174,735,146 (-427, +427) |
| nsv3168280 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 174,536,547 (-427, +427) | 174,704,284 (-427, +427) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239482 | duplication | DB57 | Sequencing | Paired-end mapping | 76 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239482 | Remapped | Perfect | NC_000001.11:g.(17 4566982_174567836) _(174734719_174735 573)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 174,567,409 (-427, +427) | 174,735,146 (-427, +427) |
| nssv14239482 | Submitted genomic | NC_000001.10:g.(17 4536120_174536974) _(174703857_174704 711)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 174,536,547 (-427, +427) | 174,704,284 (-427, +427) |