nsv7029182
- 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:12,133
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: 158 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 158 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7029182 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 25,144,855 | 25,156,987 | ||
nsv7029182 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 25,125,491 | 25,137,623 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18431051 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18431051 | Submitted genomic | NC_000020.11:g.251 44855_25156987del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 25,144,855 | 25,156,987 | ||
nssv18431051 | Remapped | Perfect | NC_000020.10:g.251 25491_25137623del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 25,125,491 | 25,137,623 |
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) |
---|---|---|---|
nssv18431051 | 4e-06 | 1 | 276210 |