nsv3918581
- 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:589,291
- Description:GRCh38/hg38 11q22.1(chr11:97849768-98439058)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: 2114 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2111 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 619 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918581 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 97,849,768 | 98,439,058 |
| nsv3918581 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 97,720,768 | 98,309,787 |
| nsv3918581 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 97,225,978 | 97,814,997 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133964 | copy number loss | Multiple | Multiple | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000135751.9, VCV000146457.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133964 | Submitted genomic | NC_000011.10:g.(?_ 97849768)_(9843905 8_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 97,849,768 | 98,439,058 |
| nssv15133964 | Submitted genomic | NC_000011.9:g.(?_9 7720768)_(98309787 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 97,720,768 | 98,309,787 |
| nssv15133964 | Submitted genomic | NC_000011.8:g.(?_9 7225978)_(97814997 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 97,225,978 | 97,814,997 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133964 | GRCh37: NC_000011.9:g.(?_97720768)_(98309787_?)del, GRCh38: NC_000011.10:g.(?_97849768)_(98439058_?)del, NCBI36: NC_000011.8:g.(?_97225978)_(97814997_?)del | copy number loss | see ClinVar for details | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000135751.9, VCV000146457.3 | 1 |