nsv3923799
- 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:7,321,065
- Description:GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)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: 17616 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 17652 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 4436 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 |
|---|---|---|---|---|---|---|---|
| nsv3923799 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 41,722,823 | 49,043,887 |
| nsv3923799 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 39,302,787 | 46,570,257 |
| nsv3923799 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 37,556,785 | 44,824,255 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137857 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142696.4, VCV000154629.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137857 | Submitted genomic | NC_000018.10:g.(?_ 41722823)_(4904388 7_?)del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 41,722,823 | 49,043,887 |
| nssv15137857 | Submitted genomic | NC_000018.9:g.(?_3 9302787)_(46570257 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 39,302,787 | 46,570,257 |
| nssv15137857 | Submitted genomic | NC_000018.8:g.(?_3 7556785)_(44824255 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 37,556,785 | 44,824,255 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137857 | GRCh37: NC_000018.9:g.(?_39302787)_(46570257_?)del, GRCh38: NC_000018.10:g.(?_41722823)_(49043887_?)del, NCBI36: NC_000018.8:g.(?_37556785)_(44824255_?)del | copy number loss | tested-inconclusive | See cases | Pathogenic | ClinVar | RCV000142696.4, VCV000154629.2 | 1 |