nsv6915148
- 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:70,362
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: 532 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 341 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 238 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6915148 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 79,893 | 150,254 | ||
| nsv6915148 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000012.11 | Chr12 | 189,059 | 259,420 |
| nsv6915148 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571048.1 | Chr12|NW_0 03571048.1 | 69,893 | 140,254 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18598688 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18598688 | Submitted genomic | NC_000012.12:g.798 93_150254dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 79,893 | 150,254 | ||
| nssv18598688 | Remapped | Perfect | NW_003571048.1:g.6 9893_140254dup | GRCh37.p13 | First Pass | NW_003571048.1 | Chr12|NW_0 03571048.1 | 69,893 | 140,254 |
| nssv18598688 | Remapped | Perfect | NC_000012.11:g.189 059_259420dup | GRCh37.p13 | Second Pass | NC_000012.11 | Chr12 | 189,059 | 259,420 |
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) |
|---|---|---|---|
| nssv18598688 | 1.4e-05 | 4 | 274130 |