nsv4675164
- 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:252,841
- Description:GRCh37/hg19 7q11.22(chr7:69659882-69912722)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: 602 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 602 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675164 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 70,194,896 | 70,447,736 |
| nsv4675164 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,659,882 | 69,912,722 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206888 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005963.1, VCV000814986.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206888 | Remapped | Perfect | NC_000007.14:g.(?_ 70194896)_(7044773 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 70,194,896 | 70,447,736 |
| nssv16206888 | Submitted genomic | NC_000007.13:g.(?_ 69659882)_(6991272 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,659,882 | 69,912,722 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206888 | GRCh37: NC_000007.13:g.(?_69659882)_(69912722_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001005963.1, VCV000814986.1 | 3 |