nsv3885862
- 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:386,878
- Description:
GRCh37/hg19 Xp22.31(chrX:7269569-7706446)x2 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 977 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 986 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885862 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 7,351,528 | 7,738,405 |
| nsv3885862 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 7,269,569 | 7,706,446 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15140301 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000449460.3, VCV000394622.3 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15140301 | Remapped | Pass | NC_000023.11:g.(?_ 7351528)_(7738405_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 7,351,528 | 7,738,405 |
| nssv15140301 | Submitted genomic | NC_000023.10:g.(?_ 7269569)_(7706446_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 7,269,569 | 7,706,446 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15140301 | GRCh37: NC_000023.10:g.(?_7269569)_(7706446_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000449460.3, VCV000394622.3 | 2 |