nsv4454441
- 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:4,350,695
- Description:GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)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: 5221 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 5075 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4454441 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 48,364,831 | 52,715,525 |
| nsv4454441 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,224,266 | 52,744,574 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775698 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847795.2, VCV000687087.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775698 | Remapped | Good | NC_000023.11:g.(?_ 48364831)_(5271552 5_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,364,831 | 52,715,525 |
| nssv15775698 | Submitted genomic | NC_000023.10:g.(?_ 48224266)_(5274457 4_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,224,266 | 52,744,574 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775698 | GRCh37: NC_000023.10:g.(?_48224266)_(52744574_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000847795.2, VCV000687087.2 | 2 |