nsv4674481
- 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:2,465,249
- Description:GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 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: 3280 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 3224 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674481 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 48,449,065 | 50,914,313 |
| nsv4674481 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,307,437 | 50,657,313 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207548 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007303.1, VCV000816349.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207548 | Remapped | Good | NC_000023.11:g.(?_ 48449065)_(5091431 3_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,449,065 | 50,914,313 |
| nssv16207548 | Submitted genomic | NC_000023.10:g.(?_ 48307437)_(5065731 3_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,307,437 | 50,657,313 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207548 | GRCh37: NC_000023.10:g.(?_48307437)_(50657313_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001007303.1, VCV000816349.1 | 3 |