nsv4728768
- 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:480,825
- Description:GRCh37/hg19 Xq27.3-28(chrX:146634335-147115161)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: 887 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 889 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728768 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 147,552,817 | 148,033,641 |
| nsv4728768 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 146,634,335 | 147,115,161 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254610 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001260051.1, VCV000980875.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254610 | Remapped | Perfect | NC_000023.11:g.(?_ 147552817)_(148033 641_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 147,552,817 | 148,033,641 |
| nssv16254610 | Submitted genomic | NC_000023.10:g.(?_ 146634335)_(147115 161_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 146,634,335 | 147,115,161 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254610 | GRCh37: NC_000023.10:g.(?_146634335)_(147115161_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001260051.1, VCV000980875.1 | 2 |