nsv3904873
- 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:1,406,008
- Description:GRCh37/hg19 11q13.2(chr11:66024774-67430781)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: 3844 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3844 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904873 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 66,257,303 | 67,663,310 |
| nsv3904873 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 66,024,774 | 67,430,781 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147700 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000240374.1, VCV000253811.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15147700 | Remapped | Perfect | NC_000011.10:g.(?_ 66257303)_(6766331 0_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 66,257,303 | 67,663,310 |
| nssv15147700 | Submitted genomic | NC_000011.9:g.(?_6 6024774)_(67430781 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 66,024,774 | 67,430,781 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147700 | GRCh37: NC_000011.9:g.(?_66024774)_(67430781_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV000240374.1, VCV000253811.1 | 3 |