nsv6990454
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,609
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: 189 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6990454 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 41,858,253 | 41,873,861 | ||
| nsv6990454 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 40,014,505 | 40,030,114 |
| nsv6990454 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571052.1 | Chr17|NW_0 03571052.1 | 144,895 | 160,503 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18626865 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18626865 | Submitted genomic | NC_000017.11:g.418 58253_41873861dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 41,858,253 | 41,873,861 | ||
| nssv18626865 | Remapped | Perfect | NW_003571052.1:g.1 44895_160503dup | GRCh37.p13 | First Pass | NW_003571052.1 | Chr17|NW_0 03571052.1 | 144,895 | 160,503 |
| nssv18626865 | Remapped | Good | NC_000017.10:g.400 14505_40030114dup | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 40,014,505 | 40,030,114 |
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) |
|---|---|---|---|
| nssv18626865 | 7e-06 | 2 | 274538 |