nsv3238409
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:66,376
- Publication(s):Chaisson 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: 268 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 272 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3238409 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 159,458,825 (-15, +15) | 159,525,200 (-15, +15) | ||
| nsv3238409 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 159,428,615 (-15, +15) | 159,494,990 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14292138 | inversion | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
| nssv14292139 | inversion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
| nssv14292140 | inversion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
| nssv14292141 | inversion | SAMN00006579 | Sequencing | Sequence alignment | Heterozygous | 13,953 |
| nssv14292142 | inversion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
| nssv14292143 | inversion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
| nssv14292144 | inversion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
| nssv14292145 | inversion | SAMN00001695 | Sequencing | Sequence alignment | Heterozygous | 15,732 |
| nssv14292146 | inversion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14292138 | Submitted genomic | NC_000001.11:g.(15 9458810_159458840) _(159525185_159525 215)inv66375 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 159,458,825 (-15, +15) | 159,525,200 (-15, +15) | ||
| nssv14292139 | Submitted genomic | NC_000001.11:g.(15 9458810_159458840) _(159525185_159525 215)inv66375 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 159,458,825 (-15, +15) | 159,525,200 (-15, +15) | ||
| nssv14292140 | Submitted genomic | NC_000001.11:g.(15 9458810_159458840) _(159525185_159525 215)inv66375 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 159,458,825 (-15, +15) | 159,525,200 (-15, +15) | ||
| nssv14292141 | Submitted genomic | NC_000001.11:g.(15 9458810_159458840) _(159525185_159525 215)inv66375 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 159,458,825 (-15, +15) | 159,525,200 (-15, +15) | ||
| nssv14292142 | Submitted genomic | NC_000001.11:g.(15 9458810_159458840) _(159525185_159525 215)inv66375 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 159,458,825 (-15, +15) | 159,525,200 (-15, +15) | ||
| nssv14292143 | Submitted genomic | NC_000001.11:g.(15 9458810_159458840) _(159525185_159525 215)inv66375 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 159,458,825 (-15, +15) | 159,525,200 (-15, +15) | ||
| nssv14292144 | Submitted genomic | NC_000001.11:g.(15 9458810_159458840) _(159525185_159525 215)inv66375 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 159,458,825 (-15, +15) | 159,525,200 (-15, +15) | ||
| nssv14292145 | Submitted genomic | NC_000001.11:g.(15 9458810_159458840) _(159525185_159525 215)inv66375 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 159,458,825 (-15, +15) | 159,525,200 (-15, +15) | ||
| nssv14292146 | Submitted genomic | NC_000001.11:g.(15 9458810_159458840) _(159525185_159525 215)inv66375 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 159,458,825 (-15, +15) | 159,525,200 (-15, +15) | ||
| nssv14292138 | Remapped | Perfect | NC_000001.10:g.(15 9428600_159428630) _(159494975_159495 005)inv66375 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 159,428,615 (-15, +15) | 159,494,990 (-15, +15) |
| nssv14292139 | Remapped | Perfect | NC_000001.10:g.(15 9428600_159428630) _(159494975_159495 005)inv66375 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 159,428,615 (-15, +15) | 159,494,990 (-15, +15) |
| nssv14292140 | Remapped | Perfect | NC_000001.10:g.(15 9428600_159428630) _(159494975_159495 005)inv66375 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 159,428,615 (-15, +15) | 159,494,990 (-15, +15) |
| nssv14292141 | Remapped | Perfect | NC_000001.10:g.(15 9428600_159428630) _(159494975_159495 005)inv66375 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 159,428,615 (-15, +15) | 159,494,990 (-15, +15) |
| nssv14292142 | Remapped | Perfect | NC_000001.10:g.(15 9428600_159428630) _(159494975_159495 005)inv66375 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 159,428,615 (-15, +15) | 159,494,990 (-15, +15) |
| nssv14292143 | Remapped | Perfect | NC_000001.10:g.(15 9428600_159428630) _(159494975_159495 005)inv66375 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 159,428,615 (-15, +15) | 159,494,990 (-15, +15) |
| nssv14292144 | Remapped | Perfect | NC_000001.10:g.(15 9428600_159428630) _(159494975_159495 005)inv66375 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 159,428,615 (-15, +15) | 159,494,990 (-15, +15) |
| nssv14292145 | Remapped | Perfect | NC_000001.10:g.(15 9428600_159428630) _(159494975_159495 005)inv66375 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 159,428,615 (-15, +15) | 159,494,990 (-15, +15) |
| nssv14292146 | Remapped | Perfect | NC_000001.10:g.(15 9428600_159428630) _(159494975_159495 005)inv66375 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 159,428,615 (-15, +15) | 159,494,990 (-15, +15) |