nsv6574642
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,251,484
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: 3367 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3170 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1488 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6574642 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 72,920,579 | 74,172,062 | ||
| nsv6574642 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 72,391,116 | 73,586,392 |
| nsv6574642 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 449,815 | 1,701,298 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18276481 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18276481 | Submitted genomic | NC_000007.14:g.729 20579_74172062inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,920,579 | 74,172,062 | ||
| nssv18276481 | Remapped | Perfect | NW_003871064.1:g.4 49815_1701298inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 449,815 | 1,701,298 |
| nssv18276481 | Remapped | Good | NC_000007.13:g.723 91116_73586392inv | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 72,391,116 | 73,586,392 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18276481 | <0.001 | 1 | 39304 |