nsv3911601
- 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:1,934,214
- Description:GRCh38/hg38 11q23.3(chr11:115647670-117581883)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: 4832 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 4832 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1136 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911601 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 115,647,670 | 117,581,883 |
| nsv3911601 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 115,518,388 | 117,452,598 |
| nsv3911601 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 115,023,598 | 116,957,808 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137190 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137585.4, VCV000148511.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137190 | Submitted genomic | NC_000011.10:g.(?_ 115647670)_(117581 883_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 115,647,670 | 117,581,883 |
| nssv15137190 | Submitted genomic | NC_000011.9:g.(?_1 15518388)_(1174525 98_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 115,518,388 | 117,452,598 |
| nssv15137190 | Submitted genomic | NC_000011.8:g.(?_1 15023598)_(1169578 08_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 115,023,598 | 116,957,808 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137190 | GRCh37: NC_000011.9:g.(?_115518388)_(117452598_?)dup, GRCh38: NC_000011.10:g.(?_115647670)_(117581883_?)dup, NCBI36: NC_000011.8:g.(?_115023598)_(116957808_?)dup | copy number gain | de novo | See cases | Uncertain significance | ClinVar | RCV000137585.4, VCV000148511.2 | 3 |