nsv3918469
- 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:1,506,523
- Description:GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)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: 4243 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 4245 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1015 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918469 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 49,989,123 | 51,495,645 |
| nsv3918469 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 48,605,660 | 50,112,183 |
| nsv3918469 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 48,039,067 | 49,545,590 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147364 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000137268.4, VCV000148193.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147364 | Submitted genomic | NC_000020.11:g.(?_ 49989123)_(5149564 5_?)del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 49,989,123 | 51,495,645 |
| nssv15147364 | Submitted genomic | NC_000020.10:g.(?_ 48605660)_(5011218 3_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 48,605,660 | 50,112,183 |
| nssv15147364 | Submitted genomic | NC_000020.9:g.(?_4 8039067)_(49545590 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 48,039,067 | 49,545,590 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147364 | GRCh37: NC_000020.10:g.(?_48605660)_(50112183_?)del, GRCh38: NC_000020.11:g.(?_49989123)_(51495645_?)del, NCBI36: NC_000020.9:g.(?_48039067)_(49545590_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000137268.4, VCV000148193.2 | 1 |