nsv7060956
- 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:47
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: 64 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 63 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7060956 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 17,641,498 | 17,641,544 | ||
| nsv7060956 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 17,683,497 | 17,683,543 |
| nsv7060956 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315932.1 | Chr10|NW_0 03315932.1 | 70,289 | 70,335 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18741120 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18741120 | Submitted genomic | NC_000010.11:g.176 41498_17641544inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 17,641,498 | 17,641,544 | ||
| nssv18741120 | Remapped | Perfect | NW_003315932.1:g.7 0289_70335inv | GRCh37.p13 | First Pass | NW_003315932.1 | Chr10|NW_0 03315932.1 | 70,289 | 70,335 |
| nssv18741120 | Remapped | Perfect | NC_000010.10:g.176 83497_17683543inv | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 17,683,497 | 17,683,543 |
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) |
|---|---|---|---|
| nssv18741120 | <0.001 | 37 | 273770 |