nsv3321613
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,106
- 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: 241 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 247 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3321613 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nsv3321613 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14733459 | line1 deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14735800 | line1 deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14736551 | line1 deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14737446 | line1 deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14737912 | line1 deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14740246 | line1 deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14740283 | line1 deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14741421 | line1 deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14742592 | line1 deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14743892 | line1 deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14745225 | line1 deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14748798 | line1 deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14750232 | line1 deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14733459 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14735800 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14736551 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14737446 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14737912 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14740246 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14740283 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14741421 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14742592 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14743892 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14745225 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14748798 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14750232 | Submitted genomic | NC_000001.11:g.218 009147_218015252de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 218,009,147 | 218,015,252 | ||
| nssv14733459 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14735800 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14736551 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14737446 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14737912 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14740246 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14740283 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14741421 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14742592 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14743892 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14745225 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14748798 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |
| nssv14750232 | Remapped | Perfect | NC_000001.10:g.218 182489_218188594de lNC_000001.10:g.21 8182489_218188594d el | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 218,182,489 | 218,188,594 |