nsv3245610
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,171
- 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: 189 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3245610 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 137,187,146 (-15, +15) | 137,210,316 (-15, +15) | ||
| nsv3245610 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 136,871,893 (-15, +15) | 136,895,063 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14339093 | inversion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
| nssv14339094 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14339093 | Submitted genomic | NC_000007.14:g.(13 7187131_137187161) _(137210301_137210 331)inv23170 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 137,187,146 (-15, +15) | 137,210,316 (-15, +15) | ||
| nssv14339094 | Submitted genomic | NC_000007.14:g.(13 7187131_137187161) _(137210301_137210 331)inv23170 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 137,187,146 (-15, +15) | 137,210,316 (-15, +15) | ||
| nssv14339093 | Remapped | Perfect | NC_000007.13:g.(13 6871878_136871908) _(136895048_136895 078)inv23170 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 136,871,893 (-15, +15) | 136,895,063 (-15, +15) |
| nssv14339094 | Remapped | Perfect | NC_000007.13:g.(13 6871878_136871908) _(136895048_136895 078)inv23170 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 136,871,893 (-15, +15) | 136,895,063 (-15, +15) |