nsv4452796
- 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:533,362
- Description:GRCh37/hg19 Xq22.1(chrX:99943376-100476729)x2 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: 978 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 979 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4452796 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 100,688,379 | 101,221,740 |
| nsv4452796 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 99,943,376 | 100,476,729 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773497 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849738.2, VCV000689047.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773497 | Remapped | Good | NC_000023.11:g.(?_ 100688379)_(101221 740_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 100,688,379 | 101,221,740 |
| nssv15773497 | Submitted genomic | NC_000023.10:g.(?_ 99943376)_(1004767 29_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 99,943,376 | 100,476,729 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773497 | GRCh37: NC_000023.10:g.(?_99943376)_(100476729_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849738.2, VCV000689047.2 | 2 |