nsv4449707
- 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:210,001
- 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: 1338 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1338 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4449707 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,829,586 | 143,839,586 | 144,029,586 | 144,039,586 |
nsv4449707 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,750,739 | 144,760,739 | 144,950,739 | 144,960,739 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv15768583 | deletion | SAMN00262971 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15768583 | Remapped | Perfect | NC_000004.12:g.(14 3829586_143839586) _(144029586_144039 586)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,829,586 | 143,839,586 | 144,029,586 | 144,039,586 |
nssv15768583 | Submitted genomic | NC_000004.11:g.(14 4750739_144760739) _(144950739_144960 739)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,750,739 | 144,760,739 | 144,950,739 | 144,960,739 |