nsv5429333
- 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:440,664
- 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: 1408 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 3226 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 511 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5429333 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 148,092,587 | 148,533,250 | ||
| nsv5429333 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 146,034,012 | 147,581,127 |
| nsv5429333 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,908,000 | 5,348,663 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16889116 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16889116 | Submitted genomic | NC_000001.11:g.148 092587_148533250de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 148,092,587 | 148,533,250 | ||
| nssv16889116 | Remapped | Perfect | NW_003871055.3:g.4 908000_5348663del | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,908,000 | 5,348,663 |
| nssv16889116 | Remapped | Pass | NC_000001.10:g.146 034012_147581127de l | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 146,034,012 | 147,581,127 |
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) |
|---|---|---|---|
| nssv16889116 | <0.001 | 2 | 6404 |