nsv4578586
- 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:5,684,879
- Description:GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1 AND Early Onset Neurological Disease Trait
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7183 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 7163 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578586 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 101,774,676 | 107,459,554 |
| nsv4578586 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 101,029,649 | 106,702,784 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16091843 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000993775.2, VCV000691849.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091843 | Remapped | Good | NC_000023.11:g.101 774676_107459554de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 101,774,676 | 107,459,554 |
| nssv16091843 | Submitted genomic | NC_000023.10:g.101 029649_106702784de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 101,029,649 | 106,702,784 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16091843 | GRCh37: NC_000023.10:g.101029649_106702784del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000993775.2, VCV000691849.2 | 1 |