nsv4254749
- 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:139,564
- 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: 90 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4254749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 50,426,624 | 50,566,187 |
| nsv4254749 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 48,503,985 | 48,643,548 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15960004 | duplication | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15960004 | Remapped | Perfect | NC_000017.11:g.504 26624_50566187dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 50,426,624 | 50,566,187 |
| nssv15960004 | Submitted genomic | NC_000017.10:g.485 03985_48643548dup | GRCh37.p13 | NC_000017.10 | Chr17 | 48,503,985 | 48,643,548 |
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) |
|---|---|---|---|
| nssv15960004 | <0.001 | 3 | 21694 |