nsv3922773
- 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:15,564,605
- Description:GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)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: 40296 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 40306 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 10841 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922773 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 119,433,909 | 134,998,513 |
| nsv3922773 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 119,304,619 | 134,868,407 |
| nsv3922773 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 118,809,829 | 134,373,617 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132614 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050905.7, VCV000057238.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132614 | Submitted genomic | NC_000011.10:g.(?_ 119433909)_(134998 513_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 119,433,909 | 134,998,513 |
| nssv15132614 | Submitted genomic | NC_000011.9:g.(?_1 19304619)_(1348684 07_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 119,304,619 | 134,868,407 |
| nssv15132614 | Submitted genomic | NC_000011.8:g.(?_1 18809829)_(1343736 17_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 118,809,829 | 134,373,617 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132614 | GRCh37: NC_000011.9:g.(?_119304619)_(134868407_?)del, GRCh38: NC_000011.10:g.(?_119433909)_(134998513_?)del, NCBI36: NC_000011.8:g.(?_118809829)_(134373617_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050905.7, VCV000057238.1 | 1 |