nsv7098321
- 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:13,513
- Description:NC_000023.10:g.(?_49074894)_(49088409_?)dup AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 145 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098321 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 49,218,435 | 49,231,947 |
| nsv7098321 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 49,074,894 | 49,088,409 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790491 | duplication | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV003116324.2, VCV002425311.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790491 | Remapped | Good | NC_000023.11:g.(?_ 49218435)_(4923194 7_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 49,218,435 | 49,231,947 |
| nssv18790491 | Submitted genomic | NC_000023.10:g.(?_ 49074894)_(4908840 9_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 49,074,894 | 49,088,409 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790491 | GRCh37: NC_000023.10:g.(?_49074894)_(49088409_?)dup | duplication | germline | not provided | Likely pathogenic | ClinVar | RCV003116324.2, VCV002425311.2 |