nsv5059979
- 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:99,561,420
- Description:GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 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: 137778 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 137730 SVs from 113 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5059979 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 56,442,647 | 156,004,066 |
| nsv5059979 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 56,469,080 | 155,233,731 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16596328 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001281359.1, VCV000992648.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16596328 | Remapped | Good | NC_000023.11:g.(56 442647_?)_(?_15600 4066)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 56,442,647 | 156,004,066 |
| nssv16596328 | Submitted genomic | NC_000023.10:g.(56 469080_?)_(?_15523 3731)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 56,469,080 | 155,233,731 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16596328 | GRCh37: NC_000023.10:g.(56469080_?)_(?_155233731)dup | copy number gain | de novo | not provided | Pathogenic | ClinVar | RCV001281359.1, VCV000992648.1 | 3 |