nsv3398160
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,111
- 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: 224 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3398160 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nsv3398160 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14772137 | line1 deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14772360 | line1 deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14774041 | line1 deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14775105 | line1 deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14778926 | line1 deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14784106 | line1 deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14785185 | line1 deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14786818 | line1 deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14788296 | line1 deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14791889 | line1 deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14772137 | Submitted genomic | NC_000004.12:g.211 59365_21165475del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nssv14772360 | Submitted genomic | NC_000004.12:g.211 59365_21165475del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nssv14774041 | Submitted genomic | NC_000004.12:g.211 59365_21165475del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nssv14775105 | Submitted genomic | NC_000004.12:g.211 59365_21165475del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nssv14778926 | Submitted genomic | NC_000004.12:g.211 59365_21165475del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nssv14784106 | Submitted genomic | NC_000004.12:g.211 59365_21165475del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nssv14785185 | Submitted genomic | NC_000004.12:g.211 59365_21165475del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nssv14786818 | Submitted genomic | NC_000004.12:g.211 59365_21165475del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nssv14788296 | Submitted genomic | NC_000004.12:g.211 59365_21165475del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nssv14791889 | Submitted genomic | NC_000004.12:g.211 59365_21165475del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 21,159,365 | 21,165,475 | ||
| nssv14772137 | Remapped | Perfect | NC_000004.11:g.211 60988_21167098delN C_000004.11:g.2116 0988_21167098del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |
| nssv14772360 | Remapped | Perfect | NC_000004.11:g.211 60988_21167098delN C_000004.11:g.2116 0988_21167098del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |
| nssv14774041 | Remapped | Perfect | NC_000004.11:g.211 60988_21167098delN C_000004.11:g.2116 0988_21167098del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |
| nssv14775105 | Remapped | Perfect | NC_000004.11:g.211 60988_21167098delN C_000004.11:g.2116 0988_21167098del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |
| nssv14778926 | Remapped | Perfect | NC_000004.11:g.211 60988_21167098delN C_000004.11:g.2116 0988_21167098del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |
| nssv14784106 | Remapped | Perfect | NC_000004.11:g.211 60988_21167098delN C_000004.11:g.2116 0988_21167098del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |
| nssv14785185 | Remapped | Perfect | NC_000004.11:g.211 60988_21167098delN C_000004.11:g.2116 0988_21167098del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |
| nssv14786818 | Remapped | Perfect | NC_000004.11:g.211 60988_21167098delN C_000004.11:g.2116 0988_21167098del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |
| nssv14788296 | Remapped | Perfect | NC_000004.11:g.211 60988_21167098delN C_000004.11:g.2116 0988_21167098del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |
| nssv14791889 | Remapped | Perfect | NC_000004.11:g.211 60988_21167098delN C_000004.11:g.2116 0988_21167098del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 21,160,988 | 21,167,098 |