nsv5030806
- 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:306
- 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: 517 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 511 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5030806 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 153,715,876 | 153,716,181 | ||
| nsv5030806 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 152,981,331 | 152,981,636 |
| nsv5030806 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,149,859 | 1,150,164 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16592047 | alu deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16592047 | Submitted genomic | NC_000023.11:g.153 715876_153716181de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 153,715,876 | 153,716,181 | ||
| nssv16592047 | Remapped | Perfect | NW_003871103.3:g.1 149859_1150164del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,149,859 | 1,150,164 |
| nssv16592047 | Remapped | Perfect | NC_000023.10:g.152 981331_152981636de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 152,981,331 | 152,981,636 |
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) |
|---|---|---|---|
| nssv16592047 | 0.002 | 55 | 29246 |