nsv3397553
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,601
- 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: 257 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 257 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3397553 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nsv3397553 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14812121 | sva deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14812279 | sva deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14812651 | sva deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14812857 | sva deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14813068 | sva deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14813269 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14813705 | sva deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14814092 | sva deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14814268 | sva deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14814514 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14814767 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14812121 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14812279 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14812651 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14812857 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14813068 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14813269 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14813705 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14814092 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14814268 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14814514 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14814767 | Submitted genomic | NC_000005.10:g.176 960580_176963180de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 176,960,580 | 176,963,180 | ||
| nssv14812121 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
| nssv14812279 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
| nssv14812651 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
| nssv14812857 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
| nssv14813068 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
| nssv14813269 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
| nssv14813705 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
| nssv14814092 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
| nssv14814268 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
| nssv14814514 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |
| nssv14814767 | Remapped | Perfect | NC_000005.9:g.1763 87581_176390181del NC_000005.9:g.1763 87581_176390181del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,387,581 | 176,390,181 |