nsv4468542
- 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: 35 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4468542 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 112,224,602 | 112,224,602 |
| nsv4468542 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805492.1 | Chr3|NW_01 9805492.1 | 117,340 | 117,340 |
| nsv4468542 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000003.11 | Chr3 | 111,943,449 | 111,943,449 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16048537 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16048537 | Remapped | Perfect | NW_019805492.1:g.1 17340_117341ins281 | GRCh38.p12 | Second Pass | NW_019805492.1 | Chr3|NW_01 9805492.1 | 117,340 | 117,340 |
| nssv16048537 | Remapped | Perfect | NC_000003.12:g.112 224602_112224603in s281 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 112,224,602 | 112,224,602 |
| nssv16048537 | Submitted genomic | NC_000003.11:g.111 943449_111943450in s281 | GRCh37.p13 | NC_000003.11 | Chr3 | 111,943,449 | 111,943,449 |
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) |
|---|---|---|---|
| nssv16048537 | <0.001 | 6 | 21694 |