nsv3910889
- 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:8,884,015
- Description:GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 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: 22015 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 22018 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 5876 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 |
|---|---|---|---|---|---|---|---|
| nsv3910889 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 26,368,962 | 35,252,976 |
| nsv3910889 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 26,390,509 | 35,274,523 |
| nsv3910889 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 26,347,085 | 35,231,099 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148034 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135295.4, VCV000145969.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148034 | Submitted genomic | NC_000011.10:g.(?_ 26368962)_(3525297 6_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 26,368,962 | 35,252,976 |
| nssv15148034 | Submitted genomic | NC_000011.9:g.(?_2 6390509)_(35274523 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 26,390,509 | 35,274,523 |
| nssv15148034 | Submitted genomic | NC_000011.8:g.(?_2 6347085)_(35231099 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 26,347,085 | 35,231,099 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148034 | GRCh37: NC_000011.9:g.(?_26390509)_(35274523_?)del, GRCh38: NC_000011.10:g.(?_26368962)_(35252976_?)del, NCBI36: NC_000011.8:g.(?_26347085)_(35231099_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135295.4, VCV000145969.1 | 1 |