nsv3918553
- 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:327,251
- Description:GRCh38/hg38 11q22.1(chr11:101580685-101907935)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: 746 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 746 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918553 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 101,580,685 | 101,907,935 |
| nsv3918553 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 101,451,416 | 101,778,666 |
| nsv3918553 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 100,956,626 | 101,283,876 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133523 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051933.6, VCV000058186.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133523 | Submitted genomic | NC_000011.10:g.(?_ 101580685)_(101907 935_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 101,580,685 | 101,907,935 |
| nssv15133523 | Submitted genomic | NC_000011.9:g.(?_1 01451416)_(1017786 66_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 101,451,416 | 101,778,666 |
| nssv15133523 | Submitted genomic | NC_000011.8:g.(?_1 00956626)_(1012838 76_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 100,956,626 | 101,283,876 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133523 | GRCh37: NC_000011.9:g.(?_101451416)_(101778666_?)dup, GRCh38: NC_000011.10:g.(?_101580685)_(101907935_?)dup, NCBI36: NC_000011.8:g.(?_100956626)_(101283876_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000051933.6, VCV000058186.2 | 3 |