nsv4203590
- 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:4,797
- 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: 35 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: 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4203590 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 56,293,973 | 56,298,769 |
| nsv4203590 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 104,722 | 109,518 |
| nsv4203590 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000011.9 | Chr11 | 56,061,449 | 56,066,245 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15801259 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15801259 | Remapped | Perfect | NW_003871073.1:g.1 04722_109518del | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 104,722 | 109,518 |
| nssv15801259 | Remapped | Perfect | NC_000011.10:g.562 93973_56298769del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,293,973 | 56,298,769 |
| nssv15801259 | Submitted genomic | NC_000011.9:g.5606 1449_56066245del | GRCh37.p13 | NC_000011.9 | Chr11 | 56,061,449 | 56,066,245 |
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) |
|---|---|---|---|
| nssv15801259 | 4.6e-005 | 1 | 21694 |