nsv3913594
- 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:3,389,519
- Description:GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)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: 9613 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 9605 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1631 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913594 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 33,432,363 | 36,821,881 |
| nsv3913594 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 32,020,169 | 35,450,284 |
| nsv3913594 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 31,483,830 | 34,883,698 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147287 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135440.4, VCV000146117.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147287 | Submitted genomic | NC_000020.11:g.(?_ 33432363)_(3682188 1_?)del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 33,432,363 | 36,821,881 |
| nssv15147287 | Submitted genomic | NC_000020.10:g.(?_ 32020169)_(3545028 4_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 32,020,169 | 35,450,284 |
| nssv15147287 | Submitted genomic | NC_000020.9:g.(?_3 1483830)_(34883698 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 31,483,830 | 34,883,698 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147287 | GRCh37: NC_000020.10:g.(?_32020169)_(35450284_?)del, GRCh38: NC_000020.11:g.(?_33432363)_(36821881_?)del, NCBI36: NC_000020.9:g.(?_31483830)_(34883698_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000135440.4, VCV000146117.2 | 1 |