nsv3890271
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,454,980
- Description:GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)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: 17899 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 17902 SVs from 123 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890271 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 98,645,170 | 105,100,149 |
| nsv3890271 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 98,515,900 | 104,970,876 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150393 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000511844.2, VCV000442680.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150393 | Remapped | Perfect | NC_000011.10:g.(?_ 98645170)_(1051001 49_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 98,645,170 | 105,100,149 |
| nssv15150393 | Submitted genomic | NC_000011.9:g.(?_9 8515900)_(10497087 6_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 98,515,900 | 104,970,876 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150393 | GRCh37: NC_000011.9:g.(?_98515900)_(104970876_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000511844.2, VCV000442680.2 | 1 |