nsv3924455
- 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:1,669,095
- Description:GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)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: 7002 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 7006 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 1893 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924455 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 55,445,689 | 57,114,783 |
| nsv3924455 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 55,213,165 | 56,882,257 |
| nsv3924455 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 54,969,741 | 56,638,833 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132617 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000050913.4, VCV000057245.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132617 | Submitted genomic | NC_000011.10:g.(?_ 55445689)_(5711478 3_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 55,445,689 | 57,114,783 |
| nssv15132617 | Submitted genomic | NC_000011.9:g.(?_5 5213165)_(56882257 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,213,165 | 56,882,257 |
| nssv15132617 | Submitted genomic | NC_000011.8:g.(?_5 4969741)_(56638833 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,969,741 | 56,638,833 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132617 | GRCh37: NC_000011.9:g.(?_55213165)_(56882257_?)del, GRCh38: NC_000011.10:g.(?_55445689)_(57114783_?)del, NCBI36: NC_000011.8:g.(?_54969741)_(56638833_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000050913.4, VCV000057245.1 | 1 |