nsv4451374
- 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:1,518,323
- Description:GRCh37/hg19 Xp11.21(chrX:56457791-57976114)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: 2496 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 2495 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451374 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 56,431,358 | 57,949,680 |
| nsv4451374 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 56,457,791 | 57,976,114 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776480 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849391.2, VCV000688700.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776480 | Remapped | Perfect | NC_000023.11:g.(?_ 56431358)_(5794968 0_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 56,431,358 | 57,949,680 |
| nssv15776480 | Submitted genomic | NC_000023.10:g.(?_ 56457791)_(5797611 4_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 56,457,791 | 57,976,114 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776480 | GRCh37: NC_000023.10:g.(?_56457791)_(57976114_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849391.2, VCV000688700.2 | 2 |