nsv6979675
- 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:115,400
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: 394 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 389 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6979675 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 41,871,201 | 41,986,600 | ||
| nsv6979675 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 40,027,454 | 40,138,618 |
| nsv6979675 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571052.1 | Chr17|NW_0 03571052.1 | 157,843 | 273,242 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18626867 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18626867 | Submitted genomic | NC_000017.11:g.418 71201_41986600dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 41,871,201 | 41,986,600 | ||
| nssv18626867 | Remapped | Perfect | NW_003571052.1:g.1 57843_273242dup | GRCh37.p13 | First Pass | NW_003571052.1 | Chr17|NW_0 03571052.1 | 157,843 | 273,242 |
| nssv18626867 | Remapped | Good | NC_000017.10:g.400 27454_40138618dup | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 40,027,454 | 40,138,618 |
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) |
|---|---|---|---|
| nssv18626867 | 4e-06 | 1 | 273930 |