nsv3902523
- 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:4,688,931
- Description:GRCh37/hg19 7q11.23-21.11(chr7:75588704-80277632)x1 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: 13796 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 13795 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3902523 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 75,959,386 | 80,648,316 |
| nsv3902523 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 75,588,704 | 80,277,632 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15167751 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000746819.2, VCV000610183.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15167751 | Remapped | Perfect | NC_000007.14:g.(?_ 75959386)_(8064831 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,959,386 | 80,648,316 |
| nssv15167751 | Submitted genomic | NC_000007.13:g.(?_ 75588704)_(8027763 2_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 75,588,704 | 80,277,632 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15167751 | GRCh37: NC_000007.13:g.(?_75588704)_(80277632_?)del | copy number loss | de novo | not provided | Pathogenic | ClinVar | RCV000746819.2, VCV000610183.2 | 1 |