nsv7142653
- Organism: Homo sapiens
- Study:nstd232 (Keane et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:58
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: 123 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7142653 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 87,801,483 | 87,801,540 |
| nsv7142653 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171807.1 | Chr10|NW_0 13171807.1 | 17,305 | 17,362 |
| nsv7142653 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000010.10 | Chr10 | 89,561,240 | 89,561,297 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18835378 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18835378 | Remapped | Perfect | NW_013171807.1:g.1 7305_17362del | GRCh38.p12 | Second Pass | NW_013171807.1 | Chr10|NW_0 13171807.1 | 17,305 | 17,362 |
| nssv18835378 | Remapped | Perfect | NC_000010.11:g.878 01483_87801540del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,801,483 | 87,801,540 |
| nssv18835378 | Submitted genomic | NC_000010.10:g.895 61240_89561297del | GRCh37.p13 | NC_000010.10 | Chr10 | 89,561,240 | 89,561,297 |
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) |
|---|---|---|---|
| nssv18835378 | 1 | 3 | 4 |