nsv5491367
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:296
- 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: 169 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5491367 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 75,770,412 (-20, +27) | 75,770,707 (-20, +20) | ||
| nsv5491367 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 75,399,730 (-20, +27) | 75,400,025 (-20, +20) |
| nsv5491367 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,299,648 (-20, +27) | 3,299,943 (-20, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16998125 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16998125 | Submitted genomic | NC_000007.14:g.(75 770392_75770439)_( 75770687_75770727) del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 75,770,412 (-20, +27) | 75,770,707 (-20, +20) | ||
| nssv16998125 | Remapped | Perfect | NW_003871064.1:g.( 3299628_3299675)_( 3299923_3299963)de l | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,299,648 (-20, +27) | 3,299,943 (-20, +20) |
| nssv16998125 | Remapped | Perfect | NC_000007.13:g.(75 399710_75399757)_( 75400005_75400045) del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 75,399,730 (-20, +27) | 75,400,025 (-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) |
|---|---|---|---|
| nssv16998125 | <0.001 | 2 | 6404 |