nsv5151750
- 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: 138 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 138 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5151750 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 75,111,139 | 75,111,172 | ||
nsv5151750 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 73,107,234 | 73,107,267 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16726975 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16726975 | Submitted genomic | NC_000017.11:g.751 11139_75111172ins2 21 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 75,111,139 | 75,111,172 | ||
nssv16726975 | Remapped | Perfect | NC_000017.10:g.731 07234_73107267ins2 21 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 73,107,234 | 73,107,267 |
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) |
---|---|
nssv16726975 | 0.211 |