nsv3109242
- Study:nstd144 (Gardner et al. 2017)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:
See descriptions for individual calls in download files - Publication(s):Gardner et al. 2017
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: 120 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3109242 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 92,153,076 | 92,153,076 |
| nsv3109242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 92,619,420 | 92,619,420 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14064463 | sva insertion | Sequencing | Split read and paired-end mapping |
| nssv14081205 | sva insertion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14064463 | Remapped | Perfect | NC_000014.9:g.9215 3076_92153077ins12 40 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 92,153,076 | 92,153,076 |
| nssv14081205 | Remapped | Perfect | NC_000014.9:g.9215 3076_92153077ins12 40 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 92,153,076 | 92,153,076 |
| nssv14064463 | Submitted genomic | NC_000014.8:g.9261 9420_92619421ins12 40 | GRCh37 (hg19) | NC_000014.8 | Chr14 | 92,619,420 | 92,619,420 | ||
| nssv14081205 | Submitted genomic | NC_000014.8:g.9261 9420_92619421ins12 40 | GRCh37 (hg19) | NC_000014.8 | Chr14 | 92,619,420 | 92,619,420 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv14081205 | 0.15 |