nsv6289756
- Organism: Homo sapiens
- Study:nstd214 (Naslavsky et al. 2022)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Naslavsky 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: 296 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6289756 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 46,110,777 | 46,110,777 | ||
| nsv6289756 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 47,530,691 | 47,530,691 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17943753 | insertion | Sequencing | Sequence alignment |
| nssv17948707 | insertion | Sequencing | Sequence alignment |
| nssv17955116 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17943753 | Submitted genomic | NC_000021.9:g.4611 0777_46110778ins53 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 46,110,777 | 46,110,777 | ||
| nssv17948707 | Submitted genomic | NC_000021.9:g.4611 0777_46110778ins53 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 46,110,777 | 46,110,777 | ||
| nssv17955116 | Submitted genomic | NC_000021.9:g.4611 0777_46110778ins53 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 46,110,777 | 46,110,777 | ||
| nssv17943753 | Remapped | Perfect | NC_000021.8:g.4753 0691_47530692ins53 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 47,530,691 | 47,530,691 |
| nssv17948707 | Remapped | Perfect | NC_000021.8:g.4753 0691_47530692ins53 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 47,530,691 | 47,530,691 |
| nssv17955116 | Remapped | Perfect | NC_000021.8:g.4753 0691_47530692ins53 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 47,530,691 | 47,530,691 |
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) |
|---|---|---|---|
| nssv17943753 | 0.002 | 1 | 598 |
| nssv17948707 | 0.498 | 1055 | 2118 |
| nssv17955116 | 0.002 | 1 | 598 |