nsv3323183
- 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:2,822
- 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: 139 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 51 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3323183 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nsv3323183 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14812043 | sva deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
nssv14812199 | sva deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
nssv14812369 | sva deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
nssv14812553 | sva deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
nssv14812756 | sva deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
nssv14812961 | sva deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
nssv14813171 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
nssv14813384 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
nssv14813568 | sva deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
nssv14813829 | sva deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
nssv14814008 | sva deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
nssv14814177 | sva deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
nssv14814388 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
nssv14814635 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14812043 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14812199 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14812369 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14812553 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14812756 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14812961 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14813171 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14813384 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14813568 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14813829 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14814008 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14814177 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14814388 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14814635 | Submitted genomic | NC_000001.11:g.248 32198_24835019del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,832,198 | 24,835,019 | ||
nssv14812043 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14812199 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14812369 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14812553 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14812756 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14812961 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14813171 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14813384 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14813568 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14813829 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14814008 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14814177 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14814388 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |
nssv14814635 | Remapped | Perfect | NC_000001.10:g.251 58689_25161510delN C_000001.10:g.2515 8689_25161510del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,158,689 | 25,161,510 |