nsv4244224
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59
- Publication(s):gnomAD_Structural_Variants
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: 52 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4244224 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 7,437,099 | 7,437,157 |
| nsv4244224 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_016107299.1 | Chr17|NW_0 16107299.1 | 57,556 | 57,614 |
| nsv4244224 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 7,340,418 | 7,340,476 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15832357 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15832357 | Remapped | Perfect | NW_016107299.1:g.5 7556_57614del | GRCh38.p12 | Second Pass | NW_016107299.1 | Chr17|NW_0 16107299.1 | 57,556 | 57,614 |
| nssv15832357 | Remapped | Perfect | NC_000017.11:g.743 7099_7437157del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 7,437,099 | 7,437,157 |
| nssv15832357 | Submitted genomic | NC_000017.10:g.734 0418_7340476del | GRCh37.p13 | NC_000017.10 | Chr17 | 7,340,418 | 7,340,476 |
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) |
|---|---|---|---|
| nssv15832357 | 4.6e-005 | 1 | 21694 |