nsv3881451
- 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:584,911
- Description:GRCh37/hg19 6p12.3(chr6:46984994-47569904)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: 1424 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1424 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3881451 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 47,017,258 | 47,602,168 |
| nsv3881451 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 46,984,994 | 47,569,904 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151441 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV000682668.1, VCV000563179.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151441 | Remapped | Perfect | NC_000006.12:g.(?_ 47017258)_(4760216 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 47,017,258 | 47,602,168 |
| nssv15151441 | Submitted genomic | NC_000006.11:g.(?_ 46984994)_(4756990 4_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 46,984,994 | 47,569,904 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151441 | GRCh37: NC_000006.11:g.(?_46984994)_(47569904_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV000682668.1, VCV000563179.1 | 3 |