nsv3898517
- 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:520,175
- Description:GRCh37/hg19 11q22.3(chr11:109558847-110079020)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: 1241 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1242 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3898517 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 109,688,121 | 110,208,295 |
| nsv3898517 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 109,558,847 | 110,079,020 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15143104 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000511370.2, VCV000442164.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15143104 | Remapped | Perfect | NC_000011.10:g.(?_ 109688121)_(110208 295_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 109,688,121 | 110,208,295 |
| nssv15143104 | Submitted genomic | NC_000011.9:g.(?_1 09558847)_(1100790 20_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 109,558,847 | 110,079,020 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15143104 | GRCh37: NC_000011.9:g.(?_109558847)_(110079020_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000511370.2, VCV000442164.2 | 3 |