nsv3410090
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:71,300
- 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: 685 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 681 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3410090 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nsv3410090 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14772933 | duplication | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14773329 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14773707 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14776688 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14777334 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14779573 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14780076 | duplication | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14781949 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14785557 | duplication | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14787330 | duplication | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14788031 | duplication | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14788938 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14790677 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14791501 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14772933 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14773329 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14773707 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14776688 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14777334 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14779573 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14780076 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14781949 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14785557 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14787330 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14788031 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14788938 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14790677 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14791501 | Submitted genomic | NC_000009.12:g.(63 838501_63838701)_( 63909800_63910000) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 63,838,601 (-100, +100) | 63,909,900 (-100, +100) | ||
| nssv14772933 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14773329 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14773707 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14776688 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14777334 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14779573 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14780076 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14781949 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14785557 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14787330 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14788031 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14788938 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14790677 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |
| nssv14791501 | Remapped | Perfect | NC_000009.11:g.(68 434235_68434435)_( 68505534_68505734) dupNC_000009.11:g. (68434235_68434435 )_(68505534_685057 34)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,434,335 (-100, +100) | 68,505,634 (-100, +100) |