nsv4449726
- Organism: Homo sapiens
- Study:nstd177 (Louzada et al. 2020)
- Variant Type:copy number variation
- Method Type:PCR
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:113,869
- Publication(s):Louzada et al. 2020
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: 1014 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1014 SVs from 88 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 | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4449726 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,904,431 | 143,904,490 | 144,018,240 | 144,018,299 |
| nsv4449726 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,825,584 | 144,825,643 | 144,939,393 | 144,939,452 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv15768598 | duplication | SAMN01096729 | PCR | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15768598 | Remapped | Perfect | NC_000004.12:g.(14 3904431_143904490) _(144018240_144018 299)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,904,431 | 143,904,490 | 144,018,240 | 144,018,299 |
| nssv15768598 | Submitted genomic | NC_000004.11:g.(14 4825584_144825643) _(144939393_144939 452)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,825,584 | 144,825,643 | 144,939,393 | 144,939,452 |