nsv3915585
- 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:6,836,291
- Description:GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)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: 14514 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 14515 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 4057 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915585 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 9,989,516 | 16,825,806 |
| nsv3915585 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 10,011,063 | 16,847,353 |
| nsv3915585 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 9,967,639 | 16,803,929 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145842 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136773.4, VCV000147607.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145842 | Submitted genomic | NC_000011.10:g.(?_ 9989516)_(16825806 _?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 9,989,516 | 16,825,806 |
| nssv15145842 | Submitted genomic | NC_000011.9:g.(?_1 0011063)_(16847353 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 10,011,063 | 16,847,353 |
| nssv15145842 | Submitted genomic | NC_000011.8:g.(?_9 967639)_(16803929_ ?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 9,967,639 | 16,803,929 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145842 | GRCh37: NC_000011.9:g.(?_10011063)_(16847353_?)del, GRCh38: NC_000011.10:g.(?_9989516)_(16825806_?)del, NCBI36: NC_000011.8:g.(?_9967639)_(16803929_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136773.4, VCV000147607.2 | 1 |