nsv4455446
- 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:3,629,821
- Description:GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 10382 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 10384 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455446 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 156,941,437 | 160,571,257 |
| nsv4455446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 157,262,571 | 160,992,289 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775835 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848057.2, VCV000687358.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775835 | Remapped | Good | NC_000006.12:g.(?_ 156941437)_(160571 257_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 156,941,437 | 160,571,257 |
| nssv15775835 | Submitted genomic | NC_000006.11:g.(?_ 157262571)_(160992 289_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 157,262,571 | 160,992,289 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775835 | GRCh37: NC_000006.11:g.(?_157262571)_(160992289_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848057.2, VCV000687358.2 | 3 |