nsv5424778
- 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:194,872
- 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: 657 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 644 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 200 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5424778 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 149,499,141 (-20, +21) | 149,694,012 (-21, +20) | ||
| nsv5424778 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 148,580,672 (-20, +21) | 148,775,672 (-21, +20) |
| nsv5424778 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,023,539 (-20, +21) | 5,218,410 (-21, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17737907 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17737907 | Submitted genomic | NC_000023.11:g.(14 9499121_149499162) _(149693991_149694 032)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,499,141 (-20, +21) | 149,694,012 (-21, +20) | ||
| nssv17737907 | Remapped | Perfect | NW_004070890.2:g.( 5023519_5023560)_( 5218389_5218430)du p | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,023,539 (-20, +21) | 5,218,410 (-21, +20) |
| nssv17737907 | Remapped | Good | NC_000023.10:g.(14 8580652_148580693) _(148775651_148775 692)dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,580,672 (-20, +21) | 148,775,672 (-21, +20) |
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) |
|---|---|---|---|
| nssv17737907 | <0.001 | 1 | 6404 |