nsv4728178
- 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:741,575
- Description:GRCh37/hg19 Xq26.2(chrX:130483014-131224642)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: 1156 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1162 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728178 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 131,349,040 | 132,090,614 |
| nsv4728178 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 130,483,014 | 131,224,642 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254605 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001260045.1, VCV000980869.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254605 | Remapped | Good | NC_000023.11:g.(?_ 131349040)_(132090 614_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 131,349,040 | 132,090,614 |
| nssv16254605 | Submitted genomic | NC_000023.10:g.(?_ 130483014)_(131224 642_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 130,483,014 | 131,224,642 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254605 | GRCh37: NC_000023.10:g.(?_130483014)_(131224642_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001260045.1, VCV000980869.1 | 3 |