nsv5492189
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:200
- Publication(s):Byrska-Bishop et al. 2022
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: 110 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5492189 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 98,880,601 | 98,880,800 | ||
| nsv5492189 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 98,478,224 | 98,478,423 |
| nsv5492189 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571041.1 | Chr7|NW_00 3571041.1 | 249,783 | 249,982 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17000706 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17000706 | Submitted genomic | NC_000007.14:g.988 80601_98880800dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 98,880,601 | 98,880,800 | ||
| nssv17000706 | Remapped | Perfect | NW_003571041.1:g.2 49783_249982dup | GRCh37.p13 | First Pass | NW_003571041.1 | Chr7|NW_00 3571041.1 | 249,783 | 249,982 |
| nssv17000706 | Remapped | Perfect | NC_000007.13:g.984 78224_98478423dup | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 98,478,224 | 98,478,423 |
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) |
|---|---|---|---|
| nssv17000706 | <0.001 | 1 | 6404 |