nsv4252913
- 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: 20 SVs from 6 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: 1 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4252913 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,746,544 | 46,746,602 |
| nsv4252913 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,265,954 | 1,266,012 |
| nsv4252913 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,732,420 | 1,732,478 |
| nsv4252913 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 44,823,910 | 44,823,968 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15833866 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15833866 | Remapped | Perfect | NT_187663.1:g.1265 954_1266012del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,265,954 | 1,266,012 |
| nssv15833866 | Remapped | Perfect | NT_167251.2:g.1732 420_1732478del | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,732,420 | 1,732,478 |
| nssv15833866 | Remapped | Perfect | NC_000017.11:g.467 46544_46746602del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,746,544 | 46,746,602 |
| nssv15833866 | Submitted genomic | NC_000017.10:g.448 23910_44823968del | GRCh37.p13 | NC_000017.10 | Chr17 | 44,823,910 | 44,823,968 |
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) |
|---|---|---|---|
| nssv15833866 | <0.001 | 21 | 21690 |