nsv6290563
- 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:569,736
- Description:GRCh37/hg19 1p34.1(chr1:46098762-46668497)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2105 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 2105 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290563 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 45,633,090 | 46,202,825 |
| nsv6290563 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 46,098,762 | 46,668,497 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956160 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001832921.1, VCV001340080.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956160 | Remapped | Perfect | NC_000001.11:g.(?_ 45633090)_(4620282 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 45,633,090 | 46,202,825 |
| nssv17956160 | Submitted genomic | NC_000001.10:g.(?_ 46098762)_(4666849 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 46,098,762 | 46,668,497 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956160 | GRCh37: NC_000001.10:g.(?_46098762)_(46668497_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001832921.1, VCV001340080.1 | 3 |