nsv3918594
- 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:4,782,387
- Description:GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)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: 10283 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 10284 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2807 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918594 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 50,784,329 | 55,566,715 |
| nsv3918594 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 50,818,240 | 55,600,627 |
| nsv3918594 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 49,375,741 | 54,158,128 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134396 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053332.4, VCV000059490.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134396 | Submitted genomic | NC_000016.10:g.(?_ 50784329)_(5556671 5_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 50,784,329 | 55,566,715 |
| nssv15134396 | Submitted genomic | NC_000016.9:g.(?_5 0818240)_(55600627 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 50,818,240 | 55,600,627 |
| nssv15134396 | Submitted genomic | NC_000016.8:g.(?_4 9375741)_(54158128 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 49,375,741 | 54,158,128 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134396 | GRCh37: NC_000016.9:g.(?_50818240)_(55600627_?)del, GRCh38: NC_000016.10:g.(?_50784329)_(55566715_?)del, NCBI36: NC_000016.8:g.(?_49375741)_(54158128_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053332.4, VCV000059490.1 | 1 |