nsv3109557
- Organism: Homo sapiens
- Study:nstd144 (Gardner et al. 2017)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:
INTERNAL=NM_005708,INTRONIC;MEINFO=L1Ta,5666,6019,+ - 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: 236 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3109557 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 94,344,301 | 94,344,301 |
| nsv3109557 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 94,996,555 | 94,996,555 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14076548 | line1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14076548 | Remapped | Perfect | NC_000013.11:g.943 44301_94344302ins3 53 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 94,344,301 | 94,344,301 |
| nssv14076548 | Submitted genomic | NC_000013.10:g.949 96555_94996556ins3 53 | GRCh37 (hg19) | NC_000013.10 | Chr13 | 94,996,555 | 94,996,555 |
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) |
|---|---|
| nssv14076548 | <0.001 |