nsv3882928
- 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:547,576
- Description:GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)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: 1480 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1479 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3882928 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 46,075,635 | 46,623,210 |
| nsv3882928 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 46,541,307 | 47,088,882 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150244 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000511609.2, VCV000443026.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150244 | Remapped | Perfect | NC_000001.11:g.(?_ 46075635)_(4662321 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 46,075,635 | 46,623,210 |
| nssv15150244 | Submitted genomic | NC_000001.10:g.(?_ 46541307)_(4708888 2_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 46,541,307 | 47,088,882 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150244 | GRCh37: NC_000001.10:g.(?_46541307)_(47088882_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000511609.2, VCV000443026.2 | 3 |