nsv6286633
- Organism: Homo sapiens
- Study:nstd214 (Naslavsky et al. 2022)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- 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: 74 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6286633 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 70,412,509 | 70,412,509 | ||
| nsv6286633 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 70,879,226 | 70,879,226 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17934564 | insertion | Sequencing | Sequence alignment |
| nssv17934882 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17934564 | Submitted genomic | NC_000014.9:g.7041 2509_70412510ins88 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 70,412,509 | 70,412,509 | ||
| nssv17934882 | Submitted genomic | NC_000014.9:g.7041 2509_70412510ins84 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 70,412,509 | 70,412,509 | ||
| nssv17934564 | Remapped | Perfect | NC_000014.8:g.7087 9226_70879227ins88 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 70,879,226 | 70,879,226 |
| nssv17934882 | Remapped | Perfect | NC_000014.8:g.7087 9226_70879227ins84 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 70,879,226 | 70,879,226 |
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) |
|---|---|---|---|
| nssv17934564 | 0.003 | 6 | 1820 |
| nssv17934882 | 0.001 | 2 | 1812 |