nsv5562340
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 272 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5562340 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 145,965,735 | 145,965,735 | ||
| nsv5562340 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 145,047,253 | 145,047,253 |
| nsv5562340 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 1,490,126 | 1,490,126 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17742788 | mobile element insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17742788 | Submitted genomic | NC_000023.11:g.145 965735_145965736in s364 | GRCh38 (hg38) | NC_000023.11 | ChrX | 145,965,735 | 145,965,735 | ||
| nssv17742788 | Remapped | Perfect | NW_004070890.2:g.1 490126_1490127ins3 64 | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 1,490,126 | 1,490,126 |
| nssv17742788 | Remapped | Perfect | NC_000023.10:g.145 047253_145047254in s364 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 145,047,253 | 145,047,253 |
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) |
|---|---|---|---|
| nssv17742788 | <0.001 | 2 | 4002 |