nsv5032101
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,313
- Publication(s):Abel et al. 2020
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: 93 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5032101 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 106,465,916 (-30, +71) | 106,472,228 (-78, +29) | ||
| nsv5032101 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 106,859,694 (-30, +71) | 106,866,006 (-78, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16540211 | line1 deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16540211 | Submitted genomic | NC_000012.12:g.(10 6465886_106465987) _(106472150_106472 257)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 106,465,916 (-30, +71) | 106,472,228 (-78, +29) | ||
| nssv16540211 | Remapped | Perfect | NC_000012.11:g.(10 6859664_106859765) _(106865928_106866 035)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 106,859,694 (-30, +71) | 106,866,006 (-78, +29) |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16540211 | <0.001 | 8 | 29246 |