nsv6637069
- 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:13,137,265
- Description:GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)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: 18733 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 18580 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637069 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 39,666,308 | 52,803,572 |
| nsv6637069 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 39,525,562 | 52,832,596 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330243 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474503.1, VCV001808658.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330243 | Remapped | Good | NC_000023.11:g.(?_ 39666308)_(5280357 2_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 39,666,308 | 52,803,572 |
| nssv18330243 | Submitted genomic | NC_000023.10:g.(?_ 39525562)_(5283259 6_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 39,525,562 | 52,832,596 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330243 | GRCh37: NC_000023.10:g.(?_39525562)_(52832596_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002474503.1, VCV001808658.1 | 3 |