nsv4839786
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:147
- 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: 95 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4839786 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 74,950,621 | 74,950,767 |
| nsv4839786 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646202.1 | Chr10|NW_0 09646202.1 | 155,297 | 155,443 |
| nsv4839786 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 76,710,379 | 76,710,525 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16355544 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16355544 | Remapped | Perfect | NW_009646202.1:g.1 55297_155443del | GRCh38.p12 | Second Pass | NW_009646202.1 | Chr10|NW_0 09646202.1 | 155,297 | 155,443 |
| nssv16355544 | Remapped | Perfect | NC_000010.11:g.749 50621_74950767del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 74,950,621 | 74,950,767 |
| nssv16355544 | Submitted genomic | NC_000010.10:g.767 10379_76710525del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 76,710,379 | 76,710,525 |
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) |
|---|---|---|---|
| nssv16355544 | <0.001 | 6 | 16834 |