nsv4728221
- 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:3,722,239
- Description:GRCh37/hg19 3p13-12.3(chr3:70938608-74660846)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: 8950 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 8950 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728221 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 70,889,457 | 74,611,695 |
| nsv4728221 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 70,938,608 | 74,660,846 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255489 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259675.1, VCV000980499.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255489 | Remapped | Perfect | NC_000003.12:g.(?_ 70889457)_(7461169 5_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 70,889,457 | 74,611,695 |
| nssv16255489 | Submitted genomic | NC_000003.11:g.(?_ 70938608)_(7466084 6_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 70,938,608 | 74,660,846 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255489 | GRCh37: NC_000003.11:g.(?_70938608)_(74660846_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259675.1, VCV000980499.1 | 3 |