nsv4105019
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,001
- 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: 58 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4105019 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 71,804,283 | 71,809,283 |
| nsv4105019 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000004.11 | Chr4 | 72,670,000 | 72,675,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15891255 | deletion | Sequencing | Other |
| nssv15974881 | duplication | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15891255 | Remapped | Perfect | NC_000004.12:g.718 04283_71809283del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 71,804,283 | 71,809,283 |
| nssv15974881 | Remapped | Perfect | NC_000004.12:g.718 04283_71809283dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 71,804,283 | 71,809,283 |
| nssv15891255 | Submitted genomic | NC_000004.11:g.726 70000_72675000del | GRCh37.p13 | NC_000004.11 | Chr4 | 72,670,000 | 72,675,000 | ||
| nssv15974881 | Submitted genomic | NC_000004.11:g.726 70000_72675000dup | GRCh37.p13 | NC_000004.11 | Chr4 | 72,670,000 | 72,675,000 |
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) |
|---|---|---|---|
| nssv15891255 | <0.001 | 3 | 19642 |
| nssv15974881 | 0.006 | 137 | 21572 |