nsv3921973
- 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:412,229
- Description:
GRCh38/hg38 20p13(chr20:828964-1241192)x3 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: 1346 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1348 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 356 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921973 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 828,964 | 1,241,192 |
| nsv3921973 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 809,607 | 1,221,836 |
| nsv3921973 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 757,607 | 1,169,836 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120676 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000052732.5, VCV000058940.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120676 | Submitted genomic | NC_000020.11:g.(?_ 828964)_(1241192_? )dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 828,964 | 1,241,192 |
| nssv15120676 | Submitted genomic | NC_000020.10:g.(?_ 809607)_(1221836_? )dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 809,607 | 1,221,836 |
| nssv15120676 | Submitted genomic | NC_000020.9:g.(?_7 57607)_(1169836_?) dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 757,607 | 1,169,836 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120676 | GRCh37: NC_000020.10:g.(?_809607)_(1221836_?)dup, GRCh38: NC_000020.11:g.(?_828964)_(1241192_?)dup, NCBI36: NC_000020.9:g.(?_757607)_(1169836_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000052732.5, VCV000058940.1 | 3 |