nsv3912905
- 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:18,324,990
- Description:GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)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: 43969 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 43865 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 11545 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912905 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 112,864,326 | 131,189,315 |
| nsv3912905 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 112,832,130 | 131,059,210 |
| nsv3912905 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 112,240,259 | 130,564,420 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137189 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137582.7, VCV000148508.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137189 | Submitted genomic | NC_000011.10:g.(?_ 112864326)_(131189 315_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 112,864,326 | 131,189,315 |
| nssv15137189 | Submitted genomic | NC_000011.9:g.(?_1 12832130)_(1310592 10_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 112,832,130 | 131,059,210 |
| nssv15137189 | Submitted genomic | NC_000011.8:g.(?_1 12240259)_(1305644 20_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 112,240,259 | 130,564,420 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137189 | GRCh37: NC_000011.9:g.(?_112832130)_(131059210_?)dup, GRCh38: NC_000011.10:g.(?_112864326)_(131189315_?)dup, NCBI36: NC_000011.8:g.(?_112240259)_(130564420_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000137582.7, VCV000148508.2 | 3 |