nsv3389975
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:707
- Description:Absence of a Alu 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: 243 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 243 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3389975 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 100,065,177 | 100,065,883 | ||
| nsv3389975 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 99,400,881 | 99,401,587 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14658318 | alu deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14658584 | alu deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14668296 | alu deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14669472 | alu deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14658318 | Submitted genomic | NC_000005.10:g.100 065177_100065883de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 100,065,177 | 100,065,883 | ||
| nssv14658584 | Submitted genomic | NC_000005.10:g.100 065177_100065883de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 100,065,177 | 100,065,883 | ||
| nssv14668296 | Submitted genomic | NC_000005.10:g.100 065177_100065883de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 100,065,177 | 100,065,883 | ||
| nssv14669472 | Submitted genomic | NC_000005.10:g.100 065177_100065883de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 100,065,177 | 100,065,883 | ||
| nssv14658318 | Remapped | Perfect | NC_000005.9:g.9940 0881_99401587delNC _000005.9:g.994008 81_99401587del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,400,881 | 99,401,587 |
| nssv14658584 | Remapped | Perfect | NC_000005.9:g.9940 0881_99401587delNC _000005.9:g.994008 81_99401587del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,400,881 | 99,401,587 |
| nssv14668296 | Remapped | Perfect | NC_000005.9:g.9940 0881_99401587delNC _000005.9:g.994008 81_99401587del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,400,881 | 99,401,587 |
| nssv14669472 | Remapped | Perfect | NC_000005.9:g.9940 0881_99401587delNC _000005.9:g.994008 81_99401587del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,400,881 | 99,401,587 |