nsv3410241
- 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:46,700
- 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: 80 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3410241 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nsv3410241 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14794299 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14795284 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14797354 | duplication | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14797787 | duplication | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14799116 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14801648 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14804235 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14804442 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14807663 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14809440 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14812023 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14794299 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14795284 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14797354 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14797787 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14799116 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14801648 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14804235 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14804442 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14807663 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14809440 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14812023 | Submitted genomic | NT_187374.1:g.(109 601_109801)_(15630 0_156500)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 109,701 (-100, +100) | 156,400 (-100, +100) | ||
| nssv14794299 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
| nssv14795284 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
| nssv14797354 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
| nssv14797787 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
| nssv14799116 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
| nssv14801648 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
| nssv14804235 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
| nssv14804442 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
| nssv14807663 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
| nssv14809440 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |
| nssv14812023 | Remapped | Pass | NC_000021.8:g.(106 18660_10618860)_(1 0647329_10647529)d upNC_000021.8:g.(1 0618660_10618860)_ (10647329_10647529 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,618,760 (-100, +100) | 10,647,429 (-100, +100) |