nsv6935815
- 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:32
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: 159 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6935815 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 132,267,216 | 132,267,247 | ||
| nsv6935815 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000012.11 | Chr12 | 132,843,802 | 132,843,833 |
| nsv6935815 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315937.1 | Chr12|NW_0 03315937.1 | 41,255 | 41,286 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18357354 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18357354 | Submitted genomic | NC_000012.12:g.132 267216_132267247de l | GRCh38 (hg38) | NC_000012.12 | Chr12 | 132,267,216 | 132,267,247 | ||
| nssv18357354 | Remapped | Perfect | NW_003315937.1:g.4 1255_41286del | GRCh37.p13 | First Pass | NW_003315937.1 | Chr12|NW_0 03315937.1 | 41,255 | 41,286 |
| nssv18357354 | Remapped | Perfect | NC_000012.11:g.132 843802_132843833de l | GRCh37.p13 | Second Pass | NC_000012.11 | Chr12 | 132,843,802 | 132,843,833 |
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) |
|---|---|---|---|
| nssv18357354 | 0.038 | 6975 | 196236 |