nsv3874235
- 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:141,939
- Description:GRCh37/hg19 Xp11.4(chrX:38486619-38628557)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: 359 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 360 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3874235 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 38,627,366 | 38,769,304 |
| nsv3874235 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 38,486,619 | 38,628,557 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150366 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000511811.2, VCV000442196.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150366 | Remapped | Perfect | NC_000023.11:g.(?_ 38627366)_(3876930 4_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 38,627,366 | 38,769,304 |
| nssv15150366 | Submitted genomic | NC_000023.10:g.(?_ 38486619)_(3862855 7_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 38,486,619 | 38,628,557 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150366 | GRCh37: NC_000023.10:g.(?_38486619)_(38628557_?)dup | copy number gain | paternal | See cases | Likely benign | ClinVar | RCV000511811.2, VCV000442196.2 | 3 |