nsv4449718
- Organism: Homo sapiens
- Study:nstd177 (Louzada et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:48,001
- 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: 808 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 808 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4449718 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,960,586 | 143,963,586 | 144,005,586 | 144,008,586 |
| nsv4449718 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,881,739 | 144,884,739 | 144,926,739 | 144,929,739 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv15768595 | duplication | BR210800138 | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15768595 | Remapped | Perfect | NC_000004.12:g.(14 3960586_143963586) _(144005586_144008 586)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,960,586 | 143,963,586 | 144,005,586 | 144,008,586 |
| nssv15768595 | Submitted genomic | NC_000004.11:g.(14 4881739_144884739) _(144926739_144929 739)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,881,739 | 144,884,739 | 144,926,739 | 144,929,739 |