nsv4567564
- 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: 166 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4567564 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 67,505,247 | 67,505,247 |
| nsv4567564 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315960.1 | Chr18|NW_0 03315960.1 | 150,974 | 150,974 |
| nsv4567564 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000018.9 | Chr18 | 65,172,484 | 65,172,484 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16021795 | line1 insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16021795 | Remapped | Perfect | NW_003315960.1:g.1 50974_150975ins135 6 | GRCh38.p12 | Second Pass | NW_003315960.1 | Chr18|NW_0 03315960.1 | 150,974 | 150,974 |
| nssv16021795 | Remapped | Perfect | NC_000018.10:g.675 05247_67505248ins1 356 | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 67,505,247 | 67,505,247 |
| nssv16021795 | Submitted genomic | NC_000018.9:g.6517 2484_65172485ins13 56 | GRCh37.p13 | NC_000018.9 | Chr18 | 65,172,484 | 65,172,484 |
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) |
|---|---|---|---|
| nssv16021795 | 4.6e-005 | 1 | 21686 |