nsv6137720
- 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:84
- Description:NM_021098.3(CACNA1H):c.2452-153_2452-70del 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: 365 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 365 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6137720 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 1,204,947 | 1,205,030 |
| nsv6137720 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 1,254,947 | 1,255,030 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17683515 | deletion | Multiple | Multiple | not provided | Benign | ClinVar | RCV001648087.2, VCV001242237.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17683515 | Submitted genomic | NC_000016.10:g.120 4947_1205030del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 1,204,947 | 1,205,030 |
| nssv17683515 | Submitted genomic | NC_000016.9:g.1254 947_1255030del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 1,254,947 | 1,255,030 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17683515 | GRCh37: NC_000016.9:g.1254947_1255030del, GRCh38: NC_000016.10:g.1204947_1205030del | deletion | germline | not provided | Benign | ClinVar | RCV001648087.2, VCV001242237.2 |