nsv5539790
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34,356,379
- Publication(s):Byrska-Bishop et al. 2022
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: 83613 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 93273 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5539790 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 5,227,438 | 39,583,816 | ||
| nsv5539790 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 10,697,897 | 44,966,043 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17733764 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17733764 | Submitted genomic | NC_000021.9:g.5227 438_39583816ins50 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 5,227,438 | 39,583,816 | ||
| nssv17733764 | Remapped | Good | NC_000021.8:g.1069 7897_44966043ins50 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,697,897 | 44,966,043 |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17733764 | 0.018 | 113 | 6244 |