nsv4451749
- 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:41,424
- Description:NC_000001.11:g.(?_155282411)_(155323834_?)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: 204 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4451749 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 155,282,411 | 155,323,834 |
| nsv4451749 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 155,252,202 | 155,293,625 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15771763 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000816636.3, VCV000659608.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15771763 | Submitted genomic | NC_000001.11:g.(?_ 155282411)_(155323 834_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 155,282,411 | 155,323,834 |
| nssv15771763 | Submitted genomic | NC_000001.10:g.(?_ 155252202)_(155293 625_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 155,252,202 | 155,293,625 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15771763 | GRCh37: NC_000001.10:g.(?_155252202)_(155293625_?)del, GRCh38: NC_000001.11:g.(?_155282411)_(155323834_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV000816636.3, VCV000659608.3 |