nsv7095609
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,408,682
- Description:NC_000001.10:g.(?_25870190)_(27278871_?)dup AND Retinitis pigmentosa 59
- Publication(s):Fahim et al. 2000
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4030 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 4031 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095609 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 25,543,699 | 26,952,380 |
| nsv7095609 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 25,870,190 | 27,278,871 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787726 | duplication | Multiple | Multiple | RETINITIS PIGMENTOSA 59; RP59; Retinitis pigmentosa; Retinitis pigmentosa 59 | Uncertain significance | ClinVar | RCV003122734.2, VCV002426901.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787726 | Remapped | Perfect | NC_000001.11:g.(?_ 25543699)_(2695238 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 25,543,699 | 26,952,380 |
| nssv18787726 | Submitted genomic | NC_000001.10:g.(?_ 25870190)_(2727887 1_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 25,870,190 | 27,278,871 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787726 | GRCh37: NC_000001.10:g.(?_25870190)_(27278871_?)dup | duplication | germline | RETINITIS PIGMENTOSA 59; RP59; Retinitis pigmentosa; Retinitis pigmentosa 59 | Uncertain significance | ClinVar | RCV003122734.2, VCV002426901.2 |