nsv6828132
- 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:467,954
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: 1291 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 916 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6828132 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 98,667,290 | 99,135,243 | ||
| nsv6828132 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 98,296,602 | 98,556,215 |
| nsv6828132 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003571041.1 | Chr7|NW_00 3571041.1 | 36,472 | 327,774 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18728698 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18728698 | Submitted genomic | NC_000007.14:g.986 67290_99135243dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 98,667,290 | 99,135,243 | ||
| nssv18728698 | Remapped | Pass | NW_003571041.1:g.3 6472_327774dup | GRCh37.p13 | First Pass | NW_003571041.1 | Chr7|NW_00 3571041.1 | 36,472 | 327,774 |
| nssv18728698 | Remapped | Pass | NC_000007.13:g.982 96602_98556215dup | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 98,296,602 | 98,556,215 |
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) |
|---|---|---|---|
| nssv18728698 | 4e-06 | 1 | 275914 |