nsv3108712
- 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_001256739,INTRONIC;MEINFO=SVA,724,1316,- - 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: 152 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3108712 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 44,265,347 | 44,265,347 |
| nsv3108712 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 42,893,987 | 42,893,987 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14072512 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14072512 | Remapped | Perfect | NC_000020.11:g.442 65347_44265348ins5 92 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 44,265,347 | 44,265,347 |
| nssv14072512 | Submitted genomic | NC_000020.10:g.428 93987_42893988ins5 92 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 42,893,987 | 42,893,987 |
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) |
|---|---|
| nssv14072512 | <0.001 |