nsv5305808
- 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:2,903
- 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: 76 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5305808 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000011.10 | Chr11 | 63,845,940 (-8, +378) | 63,848,842 (-365, +9) | ||
| nsv5305808 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 63,613,412 (-8, +378) | 63,616,314 (-365, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16753771 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16753771 | Submitted genomic | NC_000011.10:g.(63 845932_63846318)_( 63848477_63848851) del | GRCh38.p13 | NC_000011.10 | Chr11 | 63,845,940 (-8, +378) | 63,848,842 (-365, +9) | ||
| nssv16753771 | Remapped | Perfect | NC_000011.9:g.(636 13404_63613790)_(6 3615949_63616323)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 63,613,412 (-8, +378) | 63,616,314 (-365, +9) |
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) |
|---|---|
| nssv16753771 | <0.001 |