nsv6794312
- 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:10,746
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: 94 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6794312 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 140,926,590 | 140,937,335 | ||
| nsv6794312 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,306,175 | 140,316,920 |
| nsv6794312 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 161,766 | 172,511 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18509082 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18509082 | Submitted genomic | NC_000005.10:g.140 926590_140937335de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 140,926,590 | 140,937,335 | ||
| nssv18509082 | Remapped | Perfect | NW_004775428.1:g.1 61766_172511del | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 161,766 | 172,511 |
| nssv18509082 | Remapped | Perfect | NC_000005.9:g.1403 06175_140316920del | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,306,175 | 140,316,920 |
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) |
|---|---|---|---|
| nssv18509082 | 7.5e-05 | 21 | 274646 |