nsv2820933
- Organism: Homo sapiens
- Study:nstd137 (Huddleston et al. 2016)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Huddleston et al. 2016
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: 571 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 572 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2820933 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 8,614,883 | 8,614,883 | ||
| nsv2820933 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 8,582,924 | 8,582,924 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13704897 | insertion | Sequencing | Genotyping |
| nssv13707668 | insertion | Sequencing | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13704897 | Submitted genomic | NC_000023.11:g.861 4883_8614884ins62 | GRCh38 (hg38) | NC_000023.11 | ChrX | 8,614,883 | 8,614,883 | ||
| nssv13707668 | Submitted genomic | NC_000023.11:g.861 4883_8614884ins61 | GRCh38 (hg38) | NC_000023.11 | ChrX | 8,614,883 | 8,614,883 | ||
| nssv13704897 | Remapped | Perfect | NC_000023.10:g.858 2924_8582925ins62 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 8,582,924 | 8,582,924 |
| nssv13707668 | Remapped | Perfect | NC_000023.10:g.858 2924_8582925ins61 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 8,582,924 | 8,582,924 |
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) |
|---|---|---|---|
| nssv13704897 | 0.453 | 29 | 64 |
| nssv13707668 | 0.453 | 29 | 64 |