nsv3406740
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,745
- Publication(s):Audano et al. 2019
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: 491 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 423 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3406740 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 2,305,436 | 2,321,180 | ||
| nsv3406740 | Remapped | Good | GRCh37.p13 | PATCHES | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,102 | 301,843 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14763054 | deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14764067 | deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14767404 | deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14763054 | Submitted genomic | NC_000008.11:g.230 5436_2321180del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 2,305,436 | 2,321,180 | ||
| nssv14764067 | Submitted genomic | NC_000008.11:g.230 5436_2321180del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 2,305,436 | 2,321,180 | ||
| nssv14767404 | Submitted genomic | NC_000008.11:g.230 5436_2321180del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 2,305,436 | 2,321,180 | ||
| nssv14763054 | Remapped | Good | NW_003571042.1:g.2 86102_301843delNW_ 003571042.1:g.2861 02_301843del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,102 | 301,843 |
| nssv14764067 | Remapped | Good | NW_003571042.1:g.2 86102_301843delNW_ 003571042.1:g.2861 02_301843del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,102 | 301,843 |
| nssv14767404 | Remapped | Good | NW_003571042.1:g.2 86102_301843delNW_ 003571042.1:g.2861 02_301843del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,102 | 301,843 |