nsv5561379
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:sequence alteration
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,466
- Description:complex variant
- 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: 482 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 528 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5561379 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 148,280,257 | 148,303,722 | ||
| nsv5561379 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 147,752,363 | 147,775,829 |
| nsv5561379 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 5,095,670 | 5,119,135 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16889148 | sequence alteration | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16889148 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 148,280,257 | 148,303,722 | ||
| nssv16889148 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 5,095,670 | 5,119,135 |
| nssv16889148 | Remapped | Good | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 147,752,363 | 147,775,829 |
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) |
|---|---|---|---|
| nssv16889148 | <0.001 | 6 | 6404 |