nsv4392504
- 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:9,859
- 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: 377 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 377 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4392504 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 80,574,002 | 80,583,860 |
| nsv4392504 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 81,283,719 | 81,293,577 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15703852 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv15703852 | Remapped | Perfect | NC_000006.12:g.805 74002_80583860del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,574,002 | 80,583,860 |
| nssv15703852 | Submitted genomic | NC_000006.11:g.812 83719_81293577del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 81,283,719 | 81,293,577 |
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) |
|---|---|---|---|
| nssv15703852 | 0.135 | 47 | 348 |