nsv4728228
- 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:4,338,483
- Description:GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)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: 5266 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 5120 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728228 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 48,318,978 | 52,657,460 |
| nsv4728228 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,178,413 | 52,686,510 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255115 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001258954.1, VCV000979778.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255115 | Remapped | Good | NC_000023.11:g.(?_ 48318978)_(5265746 0_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,318,978 | 52,657,460 |
| nssv16255115 | Submitted genomic | NC_000023.10:g.(?_ 48178413)_(5268651 0_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,178,413 | 52,686,510 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255115 | GRCh37: NC_000023.10:g.(?_48178413)_(52686510_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001258954.1, VCV000979778.1 | 2 |