nsv3899821
- 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:206,990
- Description:GRCh37/hg19 7q21.3(chr7:94399796-94606785)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: 464 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3899821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 94,770,484 | 94,977,473 |
| nsv3899821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 94,399,796 | 94,606,785 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141587 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000449137.3, VCV000394273.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141587 | Remapped | Perfect | NC_000007.14:g.(?_ 94770484)_(9497747 3_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 94,770,484 | 94,977,473 |
| nssv15141587 | Submitted genomic | NC_000007.13:g.(?_ 94399796)_(9460678 5_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 94,399,796 | 94,606,785 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141587 | GRCh37: NC_000007.13:g.(?_94399796)_(94606785_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000449137.3, VCV000394273.3 | 3 |