nsv4502247
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 16 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4502247 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 35,922,501 | 35,922,501 |
| nsv4502247 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 157,033 | 157,033 |
| nsv4502247 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 34,249,505 | 34,249,505 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16016846 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16016846 | Remapped | Perfect | NT_187614.1:g.1570 33_157034ins280 | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 157,033 | 157,033 |
| nssv16016846 | Remapped | Perfect | NC_000017.11:g.359 22501_35922502ins2 80 | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 35,922,501 | 35,922,501 |
| nssv16016846 | Submitted genomic | NC_000017.10:g.342 49505_34249506ins2 80 | GRCh37.p13 | NC_000017.10 | Chr17 | 34,249,505 | 34,249,505 |
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) |
|---|---|---|---|
| nssv16016846 | 9.2e-005 | 2 | 21694 |