nsv3921634
- 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:2,221,904
- Description:GRCh38/hg38 11p15.1(chr11:18526222-20748125)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: 5667 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 5667 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 1721 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921634 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 18,526,222 | 20,748,125 |
| nsv3921634 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 18,547,769 | 20,769,671 |
| nsv3921634 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 18,504,345 | 20,726,247 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148021 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000134932.5, VCV000145597.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148021 | Submitted genomic | NC_000011.10:g.(?_ 18526222)_(2074812 5_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 18,526,222 | 20,748,125 |
| nssv15148021 | Submitted genomic | NC_000011.9:g.(?_1 8547769)_(20769671 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,547,769 | 20,769,671 |
| nssv15148021 | Submitted genomic | NC_000011.8:g.(?_1 8504345)_(20726247 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,504,345 | 20,726,247 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148021 | GRCh37: NC_000011.9:g.(?_18547769)_(20769671_?)dup, GRCh38: NC_000011.10:g.(?_18526222)_(20748125_?)dup, NCBI36: NC_000011.8:g.(?_18504345)_(20726247_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000134932.5, VCV000145597.2 | 3 |