nsv5309259
- 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:2,040,094
- 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: 5887 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 5887 SVs from 102 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5309259 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 213,306,384 (-339, +9) | 215,346,477 (-6, +355) | ||
| nsv5309259 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 214,171,108 (-339, +9) | 216,211,200 (-6, +355) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16737948 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16737948 | Submitted genomic | NC_000002.12:g.(21 3306045_213306393) _(215346471_215346 832)dup | GRCh38.p13 | NC_000002.12 | Chr2 | 213,306,384 (-339, +9) | 215,346,477 (-6, +355) | ||
| nssv16737948 | Remapped | Perfect | NC_000002.11:g.(21 4170769_214171117) _(216211194_216211 555)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,171,108 (-339, +9) | 216,211,200 (-6, +355) |
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) |
|---|---|
| nssv16737948 | <0.001 |