nsv6792712
- 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:8,412
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: 128 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6792712 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 140,884,515 | 140,892,926 | ||
| nsv6792712 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,264,100 | 140,272,511 |
| nsv6792712 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 119,691 | 128,102 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18509072 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18509072 | Submitted genomic | NC_000005.10:g.140 884515_140892926de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 140,884,515 | 140,892,926 | ||
| nssv18509072 | Remapped | Perfect | NW_004775428.1:g.1 19691_128102del | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 119,691 | 128,102 |
| nssv18509072 | Remapped | Perfect | NC_000005.9:g.1402 64100_140272511del | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,264,100 | 140,272,511 |
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) |
|---|---|---|---|
| nssv18509072 | 9.9e-05 | 28 | 275742 |