nsv3411211
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:94,600
- 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: 429 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 635 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3411211 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nsv3411211 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14773500 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14775350 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14776038 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14777490 | duplication | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14777635 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14779587 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14780087 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14780540 | duplication | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14780569 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14780869 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14785125 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14773500 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14775350 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14776038 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14777490 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14777635 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14779587 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14780087 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14780540 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14780569 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14780869 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14785125 | Submitted genomic | NC_000009.12:g.(39 507201_39507401)_( 39601800_39602000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,507,301 (-100, +100) | 39,601,900 (-100, +100) | ||
| nssv14773500 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
| nssv14775350 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
| nssv14776038 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
| nssv14777490 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
| nssv14777635 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
| nssv14779587 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
| nssv14780087 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
| nssv14780540 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
| nssv14780569 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
| nssv14780869 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |
| nssv14785125 | Remapped | Perfect | NC_000009.11:g.(41 652219_41652419)_( 41746818_41747018) dupNC_000009.11:g. (41652219_41652419 )_(41746818_417470 18)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 41,652,319 (-100, +100) | 41,746,918 (-100, +100) |