nsv7098672
- 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:1,154,665
- Description:NC_000023.10:g.(?_66905832)_(68060497_?)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: 1920 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1922 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098672 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 67,685,990 | 68,840,654 |
| nsv7098672 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 66,905,832 | 68,060,497 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787570 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003122568.1, VCV002424482.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787570 | Remapped | Perfect | NC_000023.11:g.(?_ 67685990)_(6884065 4_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 67,685,990 | 68,840,654 |
| nssv18787570 | Submitted genomic | NC_000023.10:g.(?_ 66905832)_(6806049 7_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 66,905,832 | 68,060,497 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787570 | GRCh37: NC_000023.10:g.(?_66905832)_(68060497_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003122568.1, VCV002424482.2 |