nsv3871599
- 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:24,547,916
- Description:GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)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: 74513 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 74509 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3871599 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 173,563,476 | 198,111,391 |
| nsv3871599 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 173,281,266 | 197,838,262 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15164224 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000742968.2, VCV000606332.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15164224 | Remapped | Good | NC_000003.12:g.(?_ 173563476)_(198111 391_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 173,563,476 | 198,111,391 |
| nssv15164224 | Submitted genomic | NC_000003.11:g.(?_ 173281266)_(197838 262_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 173,281,266 | 197,838,262 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15164224 | GRCh37: NC_000003.11:g.(?_173281266)_(197838262_?)dup | copy number gain | de novo | not provided | Pathogenic | ClinVar | RCV000742968.2, VCV000606332.2 | 3 |