nsv4451419
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,674
- Description:NC_000011.10:g.(?_93784504)_(93788177_?)del 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: 80 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4451419 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 93,784,504 | 93,788,177 |
| nsv4451419 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 93,517,670 | 93,521,343 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770218 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000800037.3, VCV000645868.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770218 | Submitted genomic | NC_000011.10:g.(?_ 93784504)_(9378817 7_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 93,784,504 | 93,788,177 |
| nssv15770218 | Submitted genomic | NC_000011.9:g.(?_9 3517670)_(93521343 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 93,517,670 | 93,521,343 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770218 | GRCh37: NC_000011.9:g.(?_93517670)_(93521343_?)del, GRCh38: NC_000011.10:g.(?_93784504)_(93788177_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV000800037.3, VCV000645868.3 |