nsv6824421
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,112
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: 310 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 283 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6824421 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 74,234,400 | 74,239,511 | ||
| nsv6824421 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 73,648,730 | 73,653,841 |
| nsv6824421 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,763,636 | 1,768,747 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18544554 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18544554 | Submitted genomic | NC_000007.14:g.742 34400_74239511del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 74,234,400 | 74,239,511 | ||
| nssv18544554 | Remapped | Perfect | NW_003871064.1:g.1 763636_1768747del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,763,636 | 1,768,747 |
| nssv18544554 | Remapped | Perfect | NC_000007.13:g.736 48730_73653841del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 73,648,730 | 73,653,841 |
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) |
|---|---|---|---|
| nssv18544554 | 4e-06 | 1 | 276194 |