nsv4578522
- 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:2,555,676
- Description:GRCh37/hg19 Xq22.1-22.2(chrX:100866604-103411980)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: 3403 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 3406 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578522 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 101,611,624 | 104,167,299 |
| nsv4578522 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 100,866,604 | 103,411,980 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16091840 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000993772.2, VCV000691846.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091840 | Remapped | Good | NC_000023.11:g.101 611624_104167299de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 101,611,624 | 104,167,299 |
| nssv16091840 | Submitted genomic | NC_000023.10:g.100 866604_103411980de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 100,866,604 | 103,411,980 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16091840 | GRCh37: NC_000023.10:g.100866604_103411980del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000993772.2, VCV000691846.2 | 1 |