nsv4675939
- 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:486,697
- Description:GRCh37/hg19 11p14.3(chr11:21970753-22457449)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: 1505 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1505 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675939 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 21,949,207 | 22,435,903 |
| nsv4675939 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 21,970,753 | 22,457,449 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207092 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006393.1, VCV000815416.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207092 | Remapped | Perfect | NC_000011.10:g.(?_ 21949207)_(2243590 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,949,207 | 22,435,903 |
| nssv16207092 | Submitted genomic | NC_000011.9:g.(?_2 1970753)_(22457449 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 21,970,753 | 22,457,449 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207092 | GRCh37: NC_000011.9:g.(?_21970753)_(22457449_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006393.1, VCV000815416.1 | 3 |