nsv6281478
- 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: 118 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6281478 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 13,328,502 | 13,328,502 | ||
| nsv6281478 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 13,328,734 | 13,328,734 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17885397 | insertion | Sequencing | Sequence alignment |
| nssv17895219 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17885397 | Submitted genomic | NC_000006.12:g.133 28502_13328503ins6 6 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 13,328,502 | 13,328,502 | ||
| nssv17895219 | Submitted genomic | NC_000006.12:g.133 28502_13328503ins8 4 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 13,328,502 | 13,328,502 | ||
| nssv17885397 | Remapped | Perfect | NC_000006.11:g.133 28734_13328735ins6 6 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 13,328,734 | 13,328,734 |
| nssv17895219 | Remapped | Perfect | NC_000006.11:g.133 28734_13328735ins8 4 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 13,328,734 | 13,328,734 |
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) |
|---|---|---|---|
| nssv17885397 | 0.001 | 2 | 1414 |
| nssv17895219 | 0.001 | 2 | 1414 |