nsv5033303
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:93
- 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: 499 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 494 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 57 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5033303 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 147,477,735 | 147,477,827 | ||
| nsv5033303 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 146,559,253 | 146,559,345 |
| nsv5033303 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 3,002,126 | 3,002,218 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16591979 | line1 deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16591979 | Submitted genomic | NC_000023.11:g.147 477735_147477827de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 147,477,735 | 147,477,827 | ||
| nssv16591979 | Remapped | Perfect | NW_004070890.2:g.3 002126_3002218del | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 3,002,126 | 3,002,218 |
| nssv16591979 | Remapped | Perfect | NC_000023.10:g.146 559253_146559345de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 146,559,253 | 146,559,345 |
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) |
|---|---|---|---|
| nssv16591979 | 0.788 | 23046 | 29240 |