nsv6289772
- 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: 87 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6289772 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 19,346,344 | 19,346,344 | ||
| nsv6289772 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 19,326,988 | 19,326,988 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17942979 | insertion | Sequencing | Sequence alignment |
| nssv17950796 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17942979 | Submitted genomic | NC_000020.11:g.193 46344_19346345ins5 6 | GRCh38 (hg38) | NC_000020.11 | Chr20 | 19,346,344 | 19,346,344 | ||
| nssv17950796 | Submitted genomic | NC_000020.11:g.193 46344_19346345ins6 0 | GRCh38 (hg38) | NC_000020.11 | Chr20 | 19,346,344 | 19,346,344 | ||
| nssv17942979 | Remapped | Perfect | NC_000020.10:g.193 26988_19326989ins5 6 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 19,326,988 | 19,326,988 |
| nssv17950796 | Remapped | Perfect | NC_000020.10:g.193 26988_19326989ins6 0 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 19,326,988 | 19,326,988 |
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) |
|---|---|---|---|
| nssv17942979 | 0.003 | 3 | 1200 |
| nssv17950796 | 0.014 | 17 | 1220 |