nsv3907180
- 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:2,417
- Description:GRCh37/hg19 7q11.21(chr7:66103208-66105624)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 116 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3907180 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 66,638,221 | 66,640,637 |
| nsv3907180 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 66,103,208 | 66,105,624 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124075 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240017.2, VCV000253379.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124075 | Remapped | Perfect | NC_000007.14:g.(?_ 66638221)_(6664063 7_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,638,221 | 66,640,637 |
| nssv15124075 | Submitted genomic | NC_000007.13:g.(?_ 66103208)_(6610562 4_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,103,208 | 66,105,624 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124075 | GRCh37: NC_000007.13:g.(?_66103208)_(66105624_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000240017.2, VCV000253379.2 | 3 |