nsv3418076
- 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:92,200
- 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: 589 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 312 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418076 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nsv3418076 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14772344 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14772666 | duplication | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14775998 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14779555 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14780214 | duplication | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14781319 | duplication | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14782778 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14783740 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14785534 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14786748 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14792000 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14772344 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14772666 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14775998 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14779555 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14780214 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14781319 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14782778 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14783740 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14785534 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14786748 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14792000 | Submitted genomic | NC_000009.12:g.(66 289501_66289701)_( 66381700_66381900) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 66,289,601 (-100, +100) | 66,381,800 (-100, +100) | ||
| nssv14772344 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
| nssv14772666 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
| nssv14775998 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
| nssv14779555 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
| nssv14780214 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
| nssv14781319 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
| nssv14782778 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
| nssv14783740 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
| nssv14785534 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
| nssv14786748 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |
| nssv14792000 | Remapped | Pass | NC_000009.11:g.(70 556436_70556636)_( 70626807_70627007) dupNC_000009.11:g. (70556436_70556636 )_(70626807_706270 07)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 70,556,536 (-100, +100) | 70,626,907 (-100, +100) |