nsv3392708
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:122
- Description:Absence of a HERV 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: 115 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 31 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3392708 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 130,261,138 | 130,261,259 | ||
nsv3392708 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 130,582,283 | 130,582,404 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14732905 | herv deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
nssv14735085 | herv deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
nssv14742125 | herv deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
nssv14742349 | herv deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
nssv14745572 | herv deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
nssv14745886 | herv deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
nssv14747505 | herv deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
nssv14747972 | herv deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
nssv14748492 | herv 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14732905 | Submitted genomic | NC_000006.12:g.130 261138_130261259de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 130,261,138 | 130,261,259 | ||
nssv14735085 | Submitted genomic | NC_000006.12:g.130 261138_130261259de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 130,261,138 | 130,261,259 | ||
nssv14742125 | Submitted genomic | NC_000006.12:g.130 261138_130261259de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 130,261,138 | 130,261,259 | ||
nssv14742349 | Submitted genomic | NC_000006.12:g.130 261138_130261259de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 130,261,138 | 130,261,259 | ||
nssv14745572 | Submitted genomic | NC_000006.12:g.130 261138_130261259de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 130,261,138 | 130,261,259 | ||
nssv14745886 | Submitted genomic | NC_000006.12:g.130 261138_130261259de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 130,261,138 | 130,261,259 | ||
nssv14747505 | Submitted genomic | NC_000006.12:g.130 261138_130261259de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 130,261,138 | 130,261,259 | ||
nssv14747972 | Submitted genomic | NC_000006.12:g.130 261138_130261259de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 130,261,138 | 130,261,259 | ||
nssv14748492 | Submitted genomic | NC_000006.12:g.130 261138_130261259de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 130,261,138 | 130,261,259 | ||
nssv14732905 | Remapped | Perfect | NC_000006.11:g.130 582283_130582404de lNC_000006.11:g.13 0582283_130582404d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 130,582,283 | 130,582,404 |
nssv14735085 | Remapped | Perfect | NC_000006.11:g.130 582283_130582404de lNC_000006.11:g.13 0582283_130582404d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 130,582,283 | 130,582,404 |
nssv14742125 | Remapped | Perfect | NC_000006.11:g.130 582283_130582404de lNC_000006.11:g.13 0582283_130582404d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 130,582,283 | 130,582,404 |
nssv14742349 | Remapped | Perfect | NC_000006.11:g.130 582283_130582404de lNC_000006.11:g.13 0582283_130582404d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 130,582,283 | 130,582,404 |
nssv14745572 | Remapped | Perfect | NC_000006.11:g.130 582283_130582404de lNC_000006.11:g.13 0582283_130582404d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 130,582,283 | 130,582,404 |
nssv14745886 | Remapped | Perfect | NC_000006.11:g.130 582283_130582404de lNC_000006.11:g.13 0582283_130582404d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 130,582,283 | 130,582,404 |
nssv14747505 | Remapped | Perfect | NC_000006.11:g.130 582283_130582404de lNC_000006.11:g.13 0582283_130582404d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 130,582,283 | 130,582,404 |
nssv14747972 | Remapped | Perfect | NC_000006.11:g.130 582283_130582404de lNC_000006.11:g.13 0582283_130582404d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 130,582,283 | 130,582,404 |
nssv14748492 | Remapped | Perfect | NC_000006.11:g.130 582283_130582404de lNC_000006.11:g.13 0582283_130582404d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 130,582,283 | 130,582,404 |