nsv7140020
- 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: 160 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7140020 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 44,047,492 | 44,047,492 |
| nsv7140020 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000020.10 | Chr20 | 42,676,132 | 42,676,132 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18832743 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18832743 | Remapped | Perfect | NC_000020.11:g.440 47492_44047493insT GGTTCTTTGGCTAGACAG TTGAAATATATAAACTTT TGGCCGGGTGTGG | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 44,047,492 | 44,047,492 |
| nssv18832743 | Submitted genomic | NC_000020.10:g.426 76132_42676133insT GGTTCTTTGGCTAGACAG TTGAAATATATAAACTTT TGGCCGGGTGTGG | GRCh37.p13 | NC_000020.10 | Chr20 | 42,676,132 | 42,676,132 |
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) |
|---|---|---|---|
| nssv18832743 | 1 | 4 | 4 |