nsv5560907
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:809
- Publication(s):Byrska-Bishop et al. 2022
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: 436 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 417 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5560907 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 105,487,497 (-20, +20) | 105,488,305 (-20, +20) | ||
| nsv5560907 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000014.8 | Chr14 | 105,953,834 (-20, +20) | 105,954,642 (-20, +20) |
| nsv5560907 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 150,664 (-20, +20) | 151,472 (-20, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17700610 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17700610 | Submitted genomic | NC_000014.9:g.(105 487477_105487517)_ (105488285_1054883 25)inv | GRCh38 (hg38) | NC_000014.9 | Chr14 | 105,487,497 (-20, +20) | 105,488,305 (-20, +20) | ||
| nssv17700610 | Remapped | Perfect | NW_004166863.1:g.( 150644_150684)_(15 1452_151492)inv | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 150,664 (-20, +20) | 151,472 (-20, +20) |
| nssv17700610 | Remapped | Perfect | NC_000014.8:g.(105 953814_105953854)_ (105954622_1059546 62)inv | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 105,953,834 (-20, +20) | 105,954,642 (-20, +20) |
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) |
|---|---|---|---|
| nssv17700610 | <0.001 | 1 | 6404 |