nsv3922253
- 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:34,691,648
- Description:GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)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: 88049 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 88074 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 23268 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 |
|---|---|---|---|---|---|---|---|
| nsv3922253 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 100,348,599 | 135,040,246 |
| nsv3922253 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 100,219,331 | 134,910,140 |
| nsv3922253 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 99,724,541 | 134,415,350 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146478 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053638.9, VCV000059772.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146478 | Submitted genomic | NC_000011.10:g.(?_ 100348599)_(135040 246_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 100,348,599 | 135,040,246 |
| nssv15146478 | Submitted genomic | NC_000011.9:g.(?_1 00219331)_(1349101 40_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 100,219,331 | 134,910,140 |
| nssv15146478 | Submitted genomic | NC_000011.8:g.(?_9 9724541)_(13441535 0_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 99,724,541 | 134,415,350 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146478 | GRCh37: NC_000011.9:g.(?_100219331)_(134910140_?)dup, GRCh38: NC_000011.10:g.(?_100348599)_(135040246_?)dup, NCBI36: NC_000011.8:g.(?_99724541)_(134415350_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053638.9, VCV000059772.1 | 3 |