nsv4431289
- Organism: Homo sapiens
- Study:nstd172 (Deng 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:80,000
- Publication(s):Deng 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: 237 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4431289 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 22,604,072 | 22,684,071 |
| nsv4431289 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000010.10 | Chr10 | 22,893,001 | 22,973,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15750489 | duplication | SMI041 | Sequencing | Sequence alignment | 593 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15750489 | Remapped | Perfect | NC_000010.11:g.226 04072_22684071dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 22,604,072 | 22,684,071 |
| nssv15750489 | Submitted genomic | NC_000010.10:g.228 93001_22973000dup | GRCh37.p13 | NC_000010.10 | Chr10 | 22,893,001 | 22,973,000 |