nsv5420629
- 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:2,274
- 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: 275 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 274 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5420629 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 52,858,754 | 52,861,027 | ||
| nsv5420629 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 52,887,783 | 52,890,056 |
| nsv5420629 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 2,571,869 | 2,574,142 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17737006 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17737006 | Submitted genomic | NC_000023.11:g.528 58754_52861027del | GRCh38 (hg38) | NC_000023.11 | ChrX | 52,858,754 | 52,861,027 | ||
| nssv17737006 | Remapped | Perfect | NW_004070877.1:g.2 571869_2574142del | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 2,571,869 | 2,574,142 |
| nssv17737006 | Remapped | Perfect | NC_000023.10:g.528 87783_52890056del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 52,887,783 | 52,890,056 |
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) |
|---|---|---|---|
| nssv17737006 | 0.627 | 4008 | 6396 |