nsv4449715
- 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:245,001
- 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: 1421 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1421 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4449715 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,909,586 | 143,919,586 | 144,144,586 | 144,154,586 |
| nsv4449715 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,830,739 | 144,840,739 | 145,065,739 | 145,075,739 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv15768596 | duplication | SAMN01091015 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15768596 | Remapped | Perfect | NC_000004.12:g.(14 3909586_143919586) _(144144586_144154 586)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,909,586 | 143,919,586 | 144,144,586 | 144,154,586 |
| nssv15768596 | Submitted genomic | NC_000004.11:g.(14 4830739_144840739) _(145065739_145075 739)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,830,739 | 144,840,739 | 145,065,739 | 145,075,739 |