nsv3912558
- 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:18,457,989
- Description:GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)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: 54663 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 54316 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 15288 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912558 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 446,754 | 18,904,742 |
| nsv3912558 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 446,754 | 18,926,289 |
| nsv3912558 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 436,754 | 18,882,865 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161310 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133997.6, VCV000144515.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161310 | Submitted genomic | NC_000011.10:g.(?_ 446754)_(18904742_ ?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 446,754 | 18,904,742 |
| nssv15161310 | Submitted genomic | NC_000011.9:g.(?_4 46754)_(18926289_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 446,754 | 18,926,289 |
| nssv15161310 | Submitted genomic | NC_000011.8:g.(?_4 36754)_(18882865_? )dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 436,754 | 18,882,865 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161310 | GRCh37: NC_000011.9:g.(?_446754)_(18926289_?)dup, GRCh38: NC_000011.10:g.(?_446754)_(18904742_?)dup, NCBI36: NC_000011.8:g.(?_436754)_(18882865_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000133997.6, VCV000144515.2 | 3 |