nsv4389374
- Organism: Homo sapiens
- Study:nstd171 (Wong et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35
- Publication(s):Wong et al. 2019
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: 73 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4389374 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 51,297,706 | 51,297,740 |
| nsv4389374 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 53,057,466 | 53,057,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15704863 | deletion | Sequencing | Sequence alignment, Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15704863 | Remapped | Perfect | NC_000010.11:g.512 97706_51297740del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 51,297,706 | 51,297,740 |
| nssv15704863 | Submitted genomic | NC_000010.10:g.530 57466_53057500del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 53,057,466 | 53,057,500 |
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) |
|---|---|---|---|
| nssv15704863 | 0.006 | 2 | 348 |