nsv5323211
- 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:270,681
- 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: 1646 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1646 SVs from 91 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5323211 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000019.10 | Chr19 | 52,378,032 (-10, +9) | 52,648,712 (-2, +1) | ||
| nsv5323211 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 52,881,285 (-10, +9) | 53,151,965 (-2, +1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16752030 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16752030 | Submitted genomic | NC_000019.10:g.(52 378022_52378041)_( 52648710_52648713) dup | GRCh38.p13 | NC_000019.10 | Chr19 | 52,378,032 (-10, +9) | 52,648,712 (-2, +1) | ||
| nssv16752030 | Remapped | Perfect | NC_000019.9:g.(528 81275_52881294)_(5 3151963_53151966)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 52,881,285 (-10, +9) | 53,151,965 (-2, +1) |
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) |
|---|---|
| nssv16752030 | <0.001 |