nsv6791793
- 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:7,528
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: 653 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 649 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 290 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6791793 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 140,850,816 | 140,858,343 | ||
| nsv6791793 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,230,401 | 140,237,928 |
| nsv6791793 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 85,992 | 93,519 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18509065 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18509065 | Submitted genomic | NC_000005.10:g.140 850816_140858343de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 140,850,816 | 140,858,343 | ||
| nssv18509065 | Remapped | Perfect | NW_004775428.1:g.8 5992_93519del | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 85,992 | 93,519 |
| nssv18509065 | Remapped | Perfect | NC_000005.9:g.1402 30401_140237928del | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,230,401 | 140,237,928 |
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) |
|---|---|---|---|
| nssv18509065 | 4e-06 | 1 | 265900 |