nsv3108739
- 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:TSD=ATAGAGT;MEINFO=SVA,902,1315,+
- 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: 173 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3108739 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 21,658,740 | 21,658,740 |
| nsv3108739 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315964.2 | Chr19|NW_0 03315964.2 | 19,932 | 19,932 |
| nsv3108739 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 21,841,542 | 21,841,542 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14074177 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14074177 | Remapped | Perfect | NW_003315964.2:g.1 9932_19933ins413 | GRCh38.p12 | Second Pass | NW_003315964.2 | Chr19|NW_0 03315964.2 | 19,932 | 19,932 |
| nssv14074177 | Remapped | Perfect | NC_000019.10:g.216 58740_21658741ins4 13 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 21,658,740 | 21,658,740 |
| nssv14074177 | Submitted genomic | NC_000019.9:g.2184 1542_21841543ins41 3 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 21,841,542 | 21,841,542 |
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) |
|---|---|
| nssv14074177 | 0.096 |