nsv4684082
- 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:483,271
- Description:GRCh37/hg19 Xq26.3(chrX:134314878-134797939)x3 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: 875 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 854 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684082 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 135,180,954 | 135,664,224 |
| nsv4684082 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 134,314,878 | 134,797,939 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215270 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001194564.1, VCV000929365.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215270 | Remapped | Good | NC_000023.11:g.(?_ 135180954)_(135664 224_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,180,954 | 135,664,224 |
| nssv16215270 | Submitted genomic | NC_000023.10:g.(?_ 134314878)_(134797 939_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,314,878 | 134,797,939 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215270 | GRCh37: NC_000023.10:g.(?_134314878)_(134797939_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV001194564.1, VCV000929365.1 | 3 |