nsv7147250
- Organism: Homo sapiens
- Study:nstd232 (Keane et al. 2023)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
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: 85 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7147250 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 49,619,140 | 49,619,140 |
| nsv7147250 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000014.8 | Chr14 | 50,085,858 | 50,085,858 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18841633 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841633 | Remapped | Perfect | NC_000014.9:g.4961 9140_49619141ins57 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 49,619,140 | 49,619,140 |
| nssv18841633 | Submitted genomic | NC_000014.8:g.5008 5858_50085859ins57 | GRCh37.p13 | NC_000014.8 | Chr14 | 50,085,858 | 50,085,858 |
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) |
|---|---|---|---|
| nssv18841633 | 0.5 | 1 | 2 |