nsv4768331
- 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:65,071
- Description:GRCh37/hg19 Xq24(chrX:118679335-118744405)x0 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 217 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768331 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 119,545,372 | 119,610,442 |
| nsv4768331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 118,679,335 | 118,744,405 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16296959 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001264395.1, VCV000984429.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16296959 | Remapped | Perfect | NC_000023.11:g.(11 9545372_?)_(?_1196 10442)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,545,372 | 119,610,442 |
| nssv16296959 | Submitted genomic | NC_000023.10:g.(11 8679335_?)_(?_1187 44405)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,679,335 | 118,744,405 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16296959 | GRCh37: NC_000023.10:g.(118679335_?)_(?_118744405)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV001264395.1, VCV000984429.1 | 0 |