nsv4768376
- 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:15,710,668
- Description:GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 AND Deletion 6q16 q21
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 38430 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 38285 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768376 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 98,502,074 | 114,212,741 |
| nsv4768376 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 98,949,950 | 114,533,905 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16296943 | copy number loss | Multiple | Multiple | Deletion 6q16 q21 | Pathogenic | ClinVar | RCV001263224.1, VCV000981211.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16296943 | Remapped | Good | NC_000006.12:g.(?_ 98502074)_(1142127 41_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 98,502,074 | 114,212,741 |
| nssv16296943 | Submitted genomic | NC_000006.11:g.(?_ 98949950)_(1145339 05_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 98,949,950 | 114,533,905 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16296943 | GRCh37: NC_000006.11:g.(?_98949950)_(114533905_?)del | copy number loss | germline | Deletion 6q16 q21 | Pathogenic | ClinVar | RCV001263224.1, VCV000981211.1 | 1 |