nsv3323677
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,160
- Description:Absence of a L1 insertion that is present in the reference
- 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: 472 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 477 SVs from 70 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3323677 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nsv3323677 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14732982 | line1 deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14733019 | line1 deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14733060 | line1 deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14733602 | line1 deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14735115 | line1 deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14735431 | line1 deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14738504 | line1 deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14743280 | line1 deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14746571 | line1 deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14746742 | line1 deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14746797 | line1 deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14747703 | line1 deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14748722 | line1 deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14751255 | line1 deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14732982 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14733019 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14733060 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14733602 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14735115 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14735431 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14738504 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14743280 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14746571 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14746742 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14746797 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14747703 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14748722 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14751255 | Submitted genomic | NC_000001.11:g.247 888178_247894337de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,888,178 | 247,894,337 | ||
| nssv14732982 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14733019 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14733060 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14733602 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14735115 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14735431 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14738504 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14743280 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14746571 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14746742 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14746797 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14747703 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14748722 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |
| nssv14751255 | Remapped | Perfect | NC_000001.10:g.248 051480_248057639de lNC_000001.10:g.24 8051480_248057639d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,051,480 | 248,057,639 |