nsv3889570
- 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:1,452,118
- Description:GRCh37/hg19 6q14.3(chr6:85770403-87222520)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: 3391 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 3391 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3889570 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 85,060,685 | 86,512,802 |
| nsv3889570 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 85,770,403 | 87,222,520 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142206 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000510653.2, VCV000441565.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142206 | Remapped | Perfect | NC_000006.12:g.(?_ 85060685)_(8651280 2_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 85,060,685 | 86,512,802 |
| nssv15142206 | Submitted genomic | NC_000006.11:g.(?_ 85770403)_(8722252 0_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 85,770,403 | 87,222,520 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142206 | GRCh37: NC_000006.11:g.(?_85770403)_(87222520_?)dup | copy number gain | de novo | See cases | Uncertain significance | ClinVar | RCV000510653.2, VCV000441565.2 | 3 |