nsv6788675
- 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:4,400
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: 193 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6788675 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 140,873,501 | 140,877,900 | ||
| nsv6788675 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,253,086 | 140,257,485 |
| nsv6788675 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 108,677 | 113,076 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18695582 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18695582 | Submitted genomic | NC_000005.10:g.140 873501_140877900du p | GRCh38 (hg38) | NC_000005.10 | Chr5 | 140,873,501 | 140,877,900 | ||
| nssv18695582 | Remapped | Perfect | NW_004775428.1:g.1 08677_113076dup | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 108,677 | 113,076 |
| nssv18695582 | Remapped | Perfect | NC_000005.9:g.1402 53086_140257485dup | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,253,086 | 140,257,485 |
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) |
|---|---|---|---|
| nssv18695582 | 4e-06 | 1 | 271538 |