nsv3545304
- 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:14,566
- 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: 153 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3545304 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 134,821,594 (-5, +5) | 134,836,159 (-0, +5) | ||
| nsv3545304 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 134,506,345 (-5, +5) | 134,520,910 (-0, +5) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14339022 | inversion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
| nssv14339023 | inversion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14339022 | Submitted genomic | NC_000007.14:g.(13 4821589_134821599) _(134836159_134836 164)inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 134,821,594 (-5, +5) | 134,836,159 (-0, +5) | ||
| nssv14339023 | Submitted genomic | NC_000007.14:g.(13 4821589_134821599) _(134836159_134836 164)inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 134,821,594 (-5, +5) | 134,836,159 (-0, +5) | ||
| nssv14339022 | Remapped | Perfect | NC_000007.13:g.(13 4506340_134506350) _(134520910_134520 915)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 134,506,345 (-5, +5) | 134,520,910 (-0, +5) |
| nssv14339023 | Remapped | Perfect | NC_000007.13:g.(13 4506340_134506350) _(134520910_134520 915)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 134,506,345 (-5, +5) | 134,520,910 (-0, +5) |