nsv3407058
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76,300
- 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: 490 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 546 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3407058 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 61,998,501 (-100, +100) | 62,074,800 (-100, +100) | ||
| nsv3407058 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 45,134,653 (-100, +100) | 45,210,952 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14784874 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14787216 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14784874 | Submitted genomic | NC_000009.12:g.(61 998401_61998601)_( 62074700_62074900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,998,501 (-100, +100) | 62,074,800 (-100, +100) | ||
| nssv14787216 | Submitted genomic | NC_000009.12:g.(61 998401_61998601)_( 62074700_62074900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,998,501 (-100, +100) | 62,074,800 (-100, +100) | ||
| nssv14784874 | Remapped | Perfect | NC_000009.11:g.(45 134553_45134753)_( 45210852_45211052) dupNC_000009.11:g. (45134553_45134753 )_(45210852_452110 52)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 45,134,653 (-100, +100) | 45,210,952 (-100, +100) |
| nssv14787216 | Remapped | Perfect | NC_000009.11:g.(45 134553_45134753)_( 45210852_45211052) dupNC_000009.11:g. (45134553_45134753 )_(45210852_452110 52)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 45,134,653 (-100, +100) | 45,210,952 (-100, +100) |