nsv4674548
- 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:291,164
- Description:GRCh37/hg19 3q29(chr3:196244688-196535851)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: 1250 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1250 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674548 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 196,517,817 | 196,808,980 |
| nsv4674548 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 196,244,688 | 196,535,851 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206683 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005503.1, VCV000814513.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206683 | Remapped | Perfect | NC_000003.12:g.(?_ 196517817)_(196808 980_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 196,517,817 | 196,808,980 |
| nssv16206683 | Submitted genomic | NC_000003.11:g.(?_ 196244688)_(196535 851_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 196,244,688 | 196,535,851 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206683 | GRCh37: NC_000003.11:g.(?_196244688)_(196535851_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005503.1, VCV000814513.1 | 3 |