nsv3894848
- 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:829,745
- Description:GRCh37/hg19 10q22.2(chr10:75179409-76009153)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: 1908 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1908 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894848 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 73,419,651 | 74,249,395 |
| nsv3894848 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 75,179,409 | 76,009,153 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142122 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000511191.2, VCV000442888.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142122 | Remapped | Perfect | NC_000010.11:g.(?_ 73419651)_(7424939 5_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 73,419,651 | 74,249,395 |
| nssv15142122 | Submitted genomic | NC_000010.10:g.(?_ 75179409)_(7600915 3_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 75,179,409 | 76,009,153 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142122 | GRCh37: NC_000010.10:g.(?_75179409)_(76009153_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000511191.2, VCV000442888.2 | 3 |