nsv5324371
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,803
- Publication(s):Chen et al. 2021
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: 202 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 202 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5324371 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000019.10 | Chr19 | 36,682,714 (-116, +9) | 36,692,516 (-10, +412) | ||
| nsv5324371 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 37,173,616 (-116, +9) | 37,183,418 (-10, +412) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16748129 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16748129 | Submitted genomic | NC_000019.10:g.(36 682598_36682723)_( 36692506_36692928) dup | GRCh38.p13 | NC_000019.10 | Chr19 | 36,682,714 (-116, +9) | 36,692,516 (-10, +412) | ||
| nssv16748129 | Remapped | Perfect | NC_000019.9:g.(371 73500_37173625)_(3 7183408_37183830)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 37,173,616 (-116, +9) | 37,183,418 (-10, +412) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16748129 | <0.001 |