nsv3879811
- 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:170,562,418
- Description:GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)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: 464546 SVs from 153 studies. See in: genome view
Overlapping variant regions from other studies: 462893 SVs from 153 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3879811 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 108,666 | 170,671,083 |
| nsv3879811 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 108,666 | 170,980,171 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15166692 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000745403.2, VCV000608767.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15166692 | Remapped | Good | NC_000006.12:g.(?_ 108666)_(170671083 _?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 108,666 | 170,671,083 |
| nssv15166692 | Submitted genomic | NC_000006.11:g.(?_ 108666)_(170980171 _?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 108,666 | 170,980,171 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15166692 | GRCh37: NC_000006.11:g.(?_108666)_(170980171_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000745403.2, VCV000608767.2 | 3 |