nsv3921121
- 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:22,416,207
- Description:GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)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: 56972 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 56906 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 15023 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921121 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 75,941,754 | 98,357,960 |
| nsv3921121 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 75,652,798 | 98,228,688 |
| nsv3921121 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 75,330,446 | 97,733,898 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161308 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133838.7, VCV000144356.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161308 | Submitted genomic | NC_000011.10:g.(?_ 75941754)_(9835796 0_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 75,941,754 | 98,357,960 |
| nssv15161308 | Submitted genomic | NC_000011.9:g.(?_7 5652798)_(98228688 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 75,652,798 | 98,228,688 |
| nssv15161308 | Submitted genomic | NC_000011.8:g.(?_7 5330446)_(97733898 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 75,330,446 | 97,733,898 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161308 | GRCh37: NC_000011.9:g.(?_75652798)_(98228688_?)del, GRCh38: NC_000011.10:g.(?_75941754)_(98357960_?)del, NCBI36: NC_000011.8:g.(?_75330446)_(97733898_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133838.7, VCV000144356.2 | 1 |