nsv4449725
- 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:240,001
- 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: 1431 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1431 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4449725 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,887,586 | 143,889,586 | 144,124,586 | 144,127,586 |
| nsv4449725 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,808,739 | 144,810,739 | 145,045,739 | 145,048,739 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv15768593 | duplication | SAMN01096750 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15768593 | Remapped | Perfect | NC_000004.12:g.(14 3887586_143889586) _(144124586_144127 586)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,887,586 | 143,889,586 | 144,124,586 | 144,127,586 |
| nssv15768593 | Submitted genomic | NC_000004.11:g.(14 4808739_144810739) _(145045739_145048 739)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,808,739 | 144,810,739 | 145,045,739 | 145,048,739 |