nsv5381815
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,415
- Description:
NC_000023.10:g.85296959_85303375inv AND Choroideremia - Publication(s):MacDonald et al. 2003
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 105 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5381815 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 86,041,956 | 86,048,370 |
| nsv5381815 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 85,296,960 | 85,303,374 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15755226 | inversion | Multiple | Multiple | CHOROIDEREMIA; CHM; Choroideremia; Choroideremia; Choroideremia; Choroideremia | Pathogenic | ClinVar | RCV000787471.2, VCV000635965.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15755226 | Submitted genomic | NC_000023.11:g.860 41956_86048370inv6 415 | GRCh38 (hg38) | NC_000023.11 | ChrX | 86,041,956 | 86,048,370 |
| nssv15755226 | Submitted genomic | NC_000023.10:g.852 96960_85303374inv6 415 | GRCh37 (hg19) | NC_000023.10 | ChrX | 85,296,960 | 85,303,374 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15755226 | GRCh37: NC_000023.10:g.85296960_85303374inv6415, GRCh38: NC_000023.11:g.86041956_86048370inv6415 | inversion | germline | CHOROIDEREMIA; CHM; Choroideremia; Choroideremia; Choroideremia; Choroideremia | Pathogenic | ClinVar | RCV000787471.2, VCV000635965.2 |