nsv5147653
- Organism: Homo sapiens
- Study:nstd203 (Borges-Monroy et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34
- Publication(s):Borges-Monroy et al. 2021
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: 140 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 13 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5147653 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 44,873,906 | 44,873,939 | ||
nsv5147653 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 42,951,274 | 42,951,307 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16716026 | alu 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16716026 | Submitted genomic | NC_000017.11:g.448 73906_44873939ins1 44 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 44,873,906 | 44,873,939 | ||
nssv16716026 | Remapped | Perfect | NC_000017.10:g.429 51274_42951307ins1 44 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 42,951,274 | 42,951,307 |
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) |
---|---|
nssv16716026 | 0.733 |