nsv3911334
- 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:596,353
- Description:GRCh38/hg38 11q23.1(chr11:111659380-112255732)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: 1503 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1504 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 361 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911334 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 111,659,380 | 112,255,732 |
| nsv3911334 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 111,530,104 | 112,126,455 |
| nsv3911334 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 111,035,314 | 111,631,665 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133875 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000134885.5, VCV000145533.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133875 | Submitted genomic | NC_000011.10:g.(?_ 111659380)_(112255 732_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 111,659,380 | 112,255,732 |
| nssv15133875 | Submitted genomic | NC_000011.9:g.(?_1 11530104)_(1121264 55_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 111,530,104 | 112,126,455 |
| nssv15133875 | Submitted genomic | NC_000011.8:g.(?_1 11035314)_(1116316 65_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 111,035,314 | 111,631,665 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133875 | GRCh37: NC_000011.9:g.(?_111530104)_(112126455_?)dup, GRCh38: NC_000011.10:g.(?_111659380)_(112255732_?)dup, NCBI36: NC_000011.8:g.(?_111035314)_(111631665_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000134885.5, VCV000145533.2 | 3 |