nsv7040402
- 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:89
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: 75 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 73 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7040402 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 140,953,742 | 140,953,830 | ||
| nsv7040402 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,333,327 | 140,333,415 |
| nsv7040402 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 188,918 | 189,006 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18774494 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18774494 | Submitted genomic | NC_000005.10:g.140 953742_140953830in v | GRCh38 (hg38) | NC_000005.10 | Chr5 | 140,953,742 | 140,953,830 | ||
| nssv18774494 | Remapped | Perfect | NW_004775428.1:g.1 88918_189006inv | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 188,918 | 189,006 |
| nssv18774494 | Remapped | Perfect | NC_000005.9:g.1403 33327_140333415inv | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,333,327 | 140,333,415 |
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) |
|---|---|---|---|
| nssv18774494 | <0.001 | 48 | 273496 |