nsv4730070
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:38,522
- Publication(s):Hanlon et al. 2021
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: 621 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 623 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730070 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 141,515,350 | 141,553,871 | ||
| nsv4730070 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 140,603,405 | 140,641,934 |
| nsv4730070 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070888.1 | ChrX|NW_00 4070888.1 | 611,153 | 649,674 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16256902 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16256902 | Submitted genomic | NC_000023.11:g.141 515350_141553871in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 141,515,350 | 141,553,871 | ||
| nssv16256902 | Remapped | Perfect | NW_004070888.1:g.6 11153_649674inv | GRCh37.p13 | First Pass | NW_004070888.1 | ChrX|NW_00 4070888.1 | 611,153 | 649,674 |
| nssv16256902 | Remapped | Good | NC_000023.10:g.140 603405_140641934in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 140,603,405 | 140,641,934 |