nsv3338435
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:806
- 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: 324 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 324 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3338435 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 919,621 | 920,426 | ||
| nsv3338435 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 1,028,787 | 1,029,592 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14512803 | alu deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14516342 | alu deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14522740 | alu deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14526156 | alu deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14528309 | alu deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14529348 | alu deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14529946 | alu deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14512803 | Submitted genomic | NC_000012.12:g.919 621_920426del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 919,621 | 920,426 | ||
| nssv14516342 | Submitted genomic | NC_000012.12:g.919 621_920426del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 919,621 | 920,426 | ||
| nssv14522740 | Submitted genomic | NC_000012.12:g.919 621_920426del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 919,621 | 920,426 | ||
| nssv14526156 | Submitted genomic | NC_000012.12:g.919 621_920426del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 919,621 | 920,426 | ||
| nssv14528309 | Submitted genomic | NC_000012.12:g.919 621_920426del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 919,621 | 920,426 | ||
| nssv14529348 | Submitted genomic | NC_000012.12:g.919 621_920426del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 919,621 | 920,426 | ||
| nssv14529946 | Submitted genomic | NC_000012.12:g.919 621_920426del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 919,621 | 920,426 | ||
| nssv14512803 | Remapped | Perfect | NC_000012.11:g.102 8787_1029592delNC_ 000012.11:g.102878 7_1029592del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 1,028,787 | 1,029,592 |
| nssv14516342 | Remapped | Perfect | NC_000012.11:g.102 8787_1029592delNC_ 000012.11:g.102878 7_1029592del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 1,028,787 | 1,029,592 |
| nssv14522740 | Remapped | Perfect | NC_000012.11:g.102 8787_1029592delNC_ 000012.11:g.102878 7_1029592del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 1,028,787 | 1,029,592 |
| nssv14526156 | Remapped | Perfect | NC_000012.11:g.102 8787_1029592delNC_ 000012.11:g.102878 7_1029592del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 1,028,787 | 1,029,592 |
| nssv14528309 | Remapped | Perfect | NC_000012.11:g.102 8787_1029592delNC_ 000012.11:g.102878 7_1029592del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 1,028,787 | 1,029,592 |
| nssv14529348 | Remapped | Perfect | NC_000012.11:g.102 8787_1029592delNC_ 000012.11:g.102878 7_1029592del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 1,028,787 | 1,029,592 |
| nssv14529946 | Remapped | Perfect | NC_000012.11:g.102 8787_1029592delNC_ 000012.11:g.102878 7_1029592del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 1,028,787 | 1,029,592 |