nsv4127216
- 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:817,849
- 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: 439 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 439 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4127216 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 169,121,216 | 169,939,064 |
| nsv4127216 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000005.9 | Chr5 | 168,548,221 | 169,366,068 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15977745 | duplication | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15977745 | Remapped | Perfect | NC_000005.10:g.169 121216_169939064du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 169,121,216 | 169,939,064 |
| nssv15977745 | Submitted genomic | NC_000005.9:g.1685 48221_169366068dup | GRCh37.p13 | NC_000005.9 | Chr5 | 168,548,221 | 169,366,068 |
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) |
|---|---|---|---|
| nssv15977745 | 9.2e-005 | 2 | 21694 |