nsv3920651
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,052,804
- Description:GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 19183 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 19183 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 4909 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920651 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 144,932,561 | 152,985,364 |
| nsv3920651 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 145,253,697 | 153,306,499 |
| nsv3920651 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 145,295,390 | 153,348,192 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147046 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052206.4, VCV000058452.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147046 | Submitted genomic | NC_000006.12:g.(?_ 144932561)_(152985 364_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 144,932,561 | 152,985,364 |
| nssv15147046 | Submitted genomic | NC_000006.11:g.(?_ 145253697)_(153306 499_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 145,253,697 | 153,306,499 |
| nssv15147046 | Submitted genomic | NC_000006.10:g.(?_ 145295390)_(153348 192_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 145,295,390 | 153,348,192 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147046 | GRCh37: NC_000006.11:g.(?_145253697)_(153306499_?)del, GRCh38: NC_000006.12:g.(?_144932561)_(152985364_?)del, NCBI36: NC_000006.10:g.(?_145295390)_(153348192_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052206.4, VCV000058452.1 | 1 |