nsv3911830
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:18,269,004
- Description:GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)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: 48106 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 48123 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 12566 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911830 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 116,806,268 | 135,075,271 |
| nsv3911830 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 116,676,984 | 134,945,165 |
| nsv3911830 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 116,182,194 | 134,450,377 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148856 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138307.6, VCV000149257.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148856 | Submitted genomic | NC_000011.10:g.(?_ 116806268)_(135075 271_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 116,806,268 | 135,075,271 |
| nssv15148856 | Submitted genomic | NC_000011.9:g.(?_1 16676984)_(1349451 65_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 116,676,984 | 134,945,165 |
| nssv15148856 | Submitted genomic | NC_000011.8:g.(?_1 16182194)_(1344503 77_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 116,182,194 | 134,450,377 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148856 | GRCh37: NC_000011.9:g.(?_116676984)_(134945165_?)dup, GRCh38: NC_000011.10:g.(?_116806268)_(135075271_?)dup, NCBI36: NC_000011.8:g.(?_116182194)_(134450377_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138307.6, VCV000149257.2 | 3 |