nsv4634377
- Organism: Homo sapiens
- Study:nstd184 (Gomez et al. 2020)
- Variant Type:copy number variation
- Method Type:MLPA
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:542,213
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: 1263 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1261 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4634377 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 150,445,574 | 150,987,786 |
| nsv4634377 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 149,613,840 | 150,156,259 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16154040 | copy number loss | M25 | MLPA | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16154040 | Remapped | Good | NC_000023.11:g.(?_ 150445574)_(150987 786_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 150,445,574 | 150,987,786 |
| nssv16154040 | Submitted genomic | NC_000023.10:g.(?_ 149613840)_(150156 259_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 149,613,840 | 150,156,259 |