nsv7052723
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:227,060
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: 708 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 693 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 231 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7052723 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 149,384,651 | 149,611,710 | ||
| nsv7052723 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 148,466,181 | 148,693,393 |
| nsv7052723 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,909,048 | 5,136,108 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18763530 | inversion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18763530 | Submitted genomic | NC_000023.11:g.149 384651_149611710in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,384,651 | 149,611,710 | ||
| nssv18763530 | Remapped | Perfect | NW_004070890.2:g.4 909048_5136108inv | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,909,048 | 5,136,108 |
| nssv18763530 | Remapped | Good | NC_000023.10:g.148 466181_148693393in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,466,181 | 148,693,393 |
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) |
|---|---|---|---|
| nssv18763530 | 9e-06 | 2 | 222222 |