nsv3399956
- 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:2,590
- Description:Absence of a SVA 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: 309 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 309 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3399956 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nsv3399956 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14812137 | sva deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14812299 | sva deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14812477 | sva deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14812680 | sva deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14812890 | sva deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14813093 | sva deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14813309 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14813496 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14813740 | sva deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14813937 | sva deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14814113 | sva deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14814299 | sva deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14814557 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14814799 | sva deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14812137 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14812299 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14812477 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14812680 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14812890 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14813093 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14813309 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14813496 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14813740 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14813937 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14814113 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14814299 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14814557 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14814799 | Submitted genomic | NC_000007.14:g.114 5429_1148018del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 1,145,429 | 1,148,018 | ||
| nssv14812137 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14812299 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14812477 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14812680 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14812890 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14813093 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14813309 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14813496 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14813740 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14813937 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14814113 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14814299 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14814557 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |
| nssv14814799 | Remapped | Perfect | NC_000007.13:g.118 5065_1187654delNC_ 000007.13:g.118506 5_1187654del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,185,065 | 1,187,654 |