nsv3320185
- 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:71,600
- 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: 331 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3320185 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 149,481,101 (-100, +100) | 149,552,700 (-100, +100) | ||
| nsv3320185 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,296,514 (-100, +100) | 6,368,113 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14473722 | duplication | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14480235 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14487880 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14473722 | Submitted genomic | NC_000001.11:g.(14 9481001_149481201) _(149552600_149552 800)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 149,481,101 (-100, +100) | 149,552,700 (-100, +100) | ||
| nssv14480235 | Submitted genomic | NC_000001.11:g.(14 9481001_149481201) _(149552600_149552 800)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 149,481,101 (-100, +100) | 149,552,700 (-100, +100) | ||
| nssv14487880 | Submitted genomic | NC_000001.11:g.(14 9481001_149481201) _(149552600_149552 800)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 149,481,101 (-100, +100) | 149,552,700 (-100, +100) | ||
| nssv14473722 | Remapped | Perfect | NW_003871055.3:g.( 6296414_6296614)_( 6368013_6368213)du pNW_003871055.3:g. (6296414_6296614)_ (6368013_6368213)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,296,514 (-100, +100) | 6,368,113 (-100, +100) |
| nssv14480235 | Remapped | Perfect | NW_003871055.3:g.( 6296414_6296614)_( 6368013_6368213)du pNW_003871055.3:g. (6296414_6296614)_ (6368013_6368213)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,296,514 (-100, +100) | 6,368,113 (-100, +100) |
| nssv14487880 | Remapped | Perfect | NW_003871055.3:g.( 6296414_6296614)_( 6368013_6368213)du pNW_003871055.3:g. (6296414_6296614)_ (6368013_6368213)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,296,514 (-100, +100) | 6,368,113 (-100, +100) |