nsv6912118
- 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:378
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: 104 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6912118 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 111,872,635 | 111,873,012 | ||
| nsv6912118 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 111,743,359 | 111,743,736 |
| nsv6912118 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871080.1 | Chr11|NW_0 03871080.1 | 124,626 | 125,003 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18580721 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18580721 | Submitted genomic | NC_000011.10:g.111 872635_111873012du p | GRCh38 (hg38) | NC_000011.10 | Chr11 | 111,872,635 | 111,873,012 | ||
| nssv18580721 | Remapped | Perfect | NW_003871080.1:g.1 24626_125003dup | GRCh37.p13 | First Pass | NW_003871080.1 | Chr11|NW_0 03871080.1 | 124,626 | 125,003 |
| nssv18580721 | Remapped | Perfect | NC_000011.9:g.1117 43359_111743736dup | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 111,743,359 | 111,743,736 |
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) |
|---|---|---|---|
| nssv18580721 | 8e-06 | 2 | 240556 |