nsv5431757
- 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:18,001
- 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: 111 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 211 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5431757 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 149,784,587 | 149,802,587 | ||
| nsv5431757 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 149,756,143 | 149,774,143 |
| nsv5431757 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,600,000 | 6,618,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16891108 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16891108 | Submitted genomic | NC_000001.11:g.149 784587_149802587du p | GRCh38 (hg38) | NC_000001.11 | Chr1 | 149,784,587 | 149,802,587 | ||
| nssv16891108 | Remapped | Perfect | NW_003871055.3:g.6 600000_6618000dup | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,600,000 | 6,618,000 |
| nssv16891108 | Remapped | Perfect | NC_000001.10:g.149 756143_149774143du p | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 149,756,143 | 149,774,143 |
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) |
|---|---|---|---|
| nssv16891108 | <0.001 | 1 | 6404 |