nsv4905515
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:26,235
- Publication(s):Abel et al. 2020
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: 514 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 514 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 57 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4905515 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 53,443,140 (-47, +3) | 53,469,374 (-3, +71) | ||
| nsv4905515 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 53,470,087 (-47, +3) | 53,496,321 (-3, +71) |
| nsv4905515 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,156,255 (-47, +3) | 3,182,489 (-3, +71) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16595219 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16595219 | Submitted genomic | NC_000023.11:g.(53 443093_53443143)_( 53469371_53469445) dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,443,140 (-47, +3) | 53,469,374 (-3, +71) | ||
| nssv16595219 | Remapped | Perfect | NW_004070877.1:g.( 3156208_3156258)_( 3182486_3182560)du p | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,156,255 (-47, +3) | 3,182,489 (-3, +71) |
| nssv16595219 | Remapped | Perfect | NC_000023.10:g.(53 470040_53470090)_( 53496318_53496392) dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,470,087 (-47, +3) | 53,496,321 (-3, +71) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16595219 | <0.001 | 1 | 29246 |